Full data view for gene NEK9

Information The variants shown are described using the NM_033116.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.202C>G r.(?) p.(Leu68Val) Unknown - VUS g.75593423G>C - NEK9(NM_033116.6):c.202C>G (p.(Leu68Val)) - NEK9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.250G>A r.(?) p.(Asp84Asn) Unknown - likely benign g.75590896C>T g.75124193C>T NEK9(NM_001329237.1):c.250G>A (p.D84N) - NEK9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.329_331del r.(?) p.(Asn110del) Unknown - likely pathogenic g.75590818_75590820del g.75124115_75124117del - - NEK9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.500T>C r.(?) p.(Ile167Thr) Unknown - pathogenic g.75587237A>G g.75120534A>G - - NEK9_000003 sample analysed 33/259 variant reads PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - - Somatic - - - - - DNA SEQ, SEQ-NG - - ACNINV - PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - F no United States - >19y - - - 1 Johan den Dunnen
-?/. - c.525-4dup r.spl? p.? Unknown - likely benign g.75585650dup - NEK9(NM_033116.6):c.525-4dup - NEK9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.874-2A>G r.spl p.? Unknown - likely pathogenic g.75580108T>C g.75113405T>C - - NEK9_000005 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.874-2A>G r.spl p.? Parent #1 - likely pathogenic (recessive) g.75580108T>C g.75113405T>C - - NEK9_000005 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam8PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1033C>T r.(?) p.(Arg345Ter) Unknown - pathogenic g.75576537G>A g.75109834G>A - - NEK9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411C>T r.(?) p.(Pro471Ser) Unknown - VUS g.75573322G>A - NEK9(NM_001329237.1):c.1411C>T (p.(Pro471Ser)) - NEK9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432del r.(?) p.(Leu478Serfs*18) Unknown - pathogenic g.75573302del g.75106599del 1432delC - NEK9_000004 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.1432del r.(?) p.(Leu478SerfsTer18) Parent #2 - pathogenic (recessive) g.75573302del g.75106599del - - NEK9_000004 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam8PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1576-8dup r.(=) p.(=) Unknown - likely benign g.75570714dup - NEK9(NM_033116.6):c.1576-8dup - NEK9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14_14i c.1715G>T r.1714_1731del p.Gly572_Glu577del Unknown - pathogenic g.75570561C>A g.75103858C>A - - NEK9_000001 2 samples analysed variant reads 29/182 and 28/164 PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - - Somatic - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ACNINV - PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - F no United States - >43y - - - 1 Johan den Dunnen
+/. 14 c.1718T>C r.(?) p.(Ile573Thr) Unknown - pathogenic g.75570558A>G g.75103855A>G - - NEK9_000002 sample analysed 12/77 variant reads PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - - Somatic - - - - - DNA SEQ, SEQ-NG - - ACNINV - PubMed: Levinsohn 2016, Journal: Levinsohn 2016 - M no United States - >10y - - - 1 Johan den Dunnen
+?/. - c.1755_1757del r.(?) p.(Thr586del) Unknown - likely pathogenic g.75568445_75568447del - NEK9(NM_033116.6):c.1755_1757delAAC (p.T586del) - NEK9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1807G>T r.(?) p.(Ala603Ser) Unknown - likely benign g.75568393C>A - NEK9(NM_001329237.1):c.1843G>T (p.A615S) - NEK9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1840+2T>C r.spl? p.? Unknown - VUS g.75568358A>G - NEK9(NM_033116.6):c.1840+2T>C - NEK9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1843C>T r.(?) p.(Arg615*) Unknown - pathogenic g.75567854G>A - - - NEK9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1871A>G r.(?) p.(Asn624Ser) Unknown - likely pathogenic g.75567826T>C g.75101123T>C - - NEK9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1988T>C r.(?) p.(Ile663Thr) Unknown - VUS g.75567709A>G - NEK9(NM_033116.6):c.1988T>C (p.(Ile663Thr)) - NEK9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2050A>G r.(?) p.(Met684Val) Unknown - VUS g.75563926T>C - NEK9(NM_033116.6):c.2050A>G (p.(Met684Val)) - NEK9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2171T>C r.(?) p.(Val724Ala) Unknown - VUS g.75563805A>G - NEK9(NM_033116.6):c.2171T>C (p.(Val724Ala)) - NEK9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2263G>A r.(?) p.(Gly755Ser) Unknown - likely benign g.75558152C>T - NEK9(NM_001329237.1):c.2299G>A (p.(Gly767Ser)) - NEK9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2289G>C r.(?) p.(Glu763Asp) Unknown - VUS g.75558126C>G - NEK9(NM_033116.6):c.2289G>C (p.E763D) - NEK9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2356C>T r.(?) p.(Arg786*) Unknown - pathogenic g.75558059G>A - - - NEK9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2385A>G r.(?) p.(Thr795=) Unknown - likely benign g.75558030T>C - NEK9(NM_001329237.1):c.2421A>G (p.T807=) - NEK9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2604+9G>A r.(=) p.(=) Unknown - likely benign g.75555174C>T - NEK9(NM_033116.6):c.2604+9G>A - NEK9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2676C>T r.(?) p.(=) Unknown - VUS g.75553862G>A - NEK9(NM_033116.6):c.2676C>T (p.(Cys892=)) - NEK9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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