Full data view for gene ELANE

Information The variants shown are described using the NM_001972.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.? r.? p.? Unknown - likely pathogenic (recessive) g.? - 4981del (A294fsX210) - NPHS1_000138 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - 597G>A (V161F) - NPHS1_000138 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - - - NPHS1_000138 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - 97C>L - NPHS1_000138 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - 97C>L - NPHS1_000138 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.14G>T r.(?) p.(Arg5Leu) Unknown - likely benign g.852342G>T - ELANE(NM_001972.2):c.14G>T (p.R5L) - ELANE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63G>T r.(?) p.(Leu21=) Unknown - likely benign g.852391G>T g.852391G>T ELANE(NM_001972.2):c.63G>T (p.L21=) - ELANE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-5C>A r.spl? p.? Unknown - likely benign g.852871C>A - ELANE(NM_001972.2):c.68-5C>A - ELANE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136T>C r.(?) p.(Ser46Pro) Unknown - pathogenic g.852944T>C - - - ELANE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.158A>G r.(?) p.(His53Arg) Unknown - pathogenic g.852966A>G - - - ELANE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171C>T r.(?) p.(Ala57=) Unknown - likely benign g.852979C>T - ELANE(NM_001972.2):c.171C>T (p.A57=) - ELANE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>T r.(?) p.(Ser67=) Unknown - likely benign g.853009G>T g.853009G>T ELANE(NM_001972.2):c.201G>T (p.S67=), ELANE(NM_001972.4):c.201G>T (p.S67=) - ELANE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>T r.(?) p.(Ser67=) Unknown - likely benign g.853009G>T g.853009G>T ELANE(NM_001972.2):c.201G>T (p.S67=), ELANE(NM_001972.4):c.201G>T (p.S67=) - ELANE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>T r.(?) p.(Val72=) Unknown - likely benign g.853024G>T g.853024G>T ELANE(NM_001972.2):c.216G>T (p.V72=) - ELANE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225-8C>T r.(=) p.(=) Unknown - likely benign g.853254C>T - ELANE(NM_001972.2):c.225-8C>T (p.?) - ELANE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.275G>A r.(?) p.(Arg92Gln) Unknown - likely benign g.853312G>A - ELANE(NM_001972.2):c.275G>A (p.R92Q) - ELANE_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.308G>T r.(?) p.(Arg103Leu) Unknown - pathogenic g.853345G>T - ELANE(NM_001972.4):c.308G>T (p.R103L) - ELANE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333C>T r.(?) p.(Pro111=) Unknown - likely benign g.853370C>T - ELANE(NM_001972.2):c.333C>T (p.P111=) - ELANE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377C>T r.(?) p.(Ser126Leu) Unknown - pathogenic g.855574C>T - ELANE(NM_001972.4):c.377C>T (p.S126L) - CFD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377C>T r.(?) p.(Ser126Leu) Unknown - pathogenic g.855574C>T - ELANE(NM_001972.4):c.377C>T (p.S126L) - CFD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.390C>T r.(?) p.(Asn130=) Unknown - benign g.855587C>T g.855587C>T ELANE(NM_001972.2):c.390C>T (p.(=), p.N130=) - ELANE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.390C>T r.(?) p.(Asn130=) Unknown - benign g.855587C>T g.855587C>T ELANE(NM_001972.2):c.390C>T (p.(=), p.N130=) - ELANE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Val149Met) Unknown - VUS g.855642G>A - ELANE(NM_001972.4):c.445G>A (p.V149M) - CFD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Arg182His) Unknown - VUS g.855742G>A g.855742G>A ELANE(NM_001972.4):c.545G>A (p.R182H) - CFD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+10C>G r.(=) p.(=) Unknown - likely benign g.855804C>G g.855804C>G ELANE(NM_001972.2):c.597+10C>G - CFD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.655G>A r.(?) p.(Val219Ile) Unknown - benign g.856015G>A g.856015G>A ELANE(NM_001972.2):c.655G>A (p.V219I) - ELANE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.655G>A r.(?) p.(Val219Ile) Unknown - benign g.856015G>A g.856015G>A ELANE(NM_001972.2):c.655G>A (p.V219I) - ELANE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.659G>A r.(?) p.(Arg220Gln) Unknown - pathogenic g.856019G>A - - - CFD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.674C>A r.(?) p.(Ser225Ter) Unknown - likely pathogenic (recessive) g.856034C>A g.856034C>A 674C>A - ELANE_000011 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.687C>T r.(?) p.(Pro229=) Unknown - likely benign g.856047C>T g.856047C>T ELANE(NM_001972.2):c.687C>T (p.P229=) - CFD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - likely benign g.856130C>T g.856130C>T ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu)) - ELANE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - likely benign g.856130C>T g.856130C>T ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu)) - ELANE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - likely benign g.856130C>T g.856130C>T ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu)) - ELANE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - likely benign g.856130C>T - ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu)) - ELANE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784C>T r.(?) p.(Pro262Ser) Unknown - likely benign g.856144C>T - ELANE(NM_001972.2):c.784C>T (p.P262S), ELANE(NM_001972.4):c.784C>T (p.P262S) - CFD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784C>T r.(?) p.(Pro262Ser) Unknown - likely benign g.856144C>T - ELANE(NM_001972.2):c.784C>T (p.P262S), ELANE(NM_001972.4):c.784C>T (p.P262S) - CFD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785C>T r.(?) p.(Pro262Leu) Unknown - benign g.856145C>T g.856145C>T ELANE(NM_001972.2):c.785C>T (p.P262L) - ELANE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785C>T r.(?) p.(Pro262Leu) Unknown - benign g.856145C>T - ELANE(NM_001972.2):c.785C>T (p.P262L) - ELANE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3559C>T r.(=) p.(=) Unknown - likely benign g.859723C>T g.859723C>T CFD(NM_001928.2):c.34C>T (p.L12F) - CFD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4522C>A r.(=) p.(=) Unknown - pathogenic g.860686C>A g.860686C>A CFD(NM_001928.2):c.125C>A (p.S42*) - CFD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4522C>A r.(=) p.(=) Unknown - pathogenic g.860686C>A - CFD(NM_001928.2):c.125C>A (p.S42*) - CFD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4602G>A r.(=) p.(=) Unknown - VUS g.860766G>A g.860766G>A CFD(NM_001928.2):c.205G>A (p.(Glu69Lys)) - CFD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4602G>A r.(=) p.(=) Unknown - likely benign g.860766G>A g.860766G>A CFD(NM_001928.2):c.205G>A (p.(Glu69Lys)) - CFD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4616G>T r.(=) p.(=) Unknown - benign g.860780G>T - CFD(NM_001928.2):c.212+7G>T - CFD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4620G>A r.(=) p.(=) Unknown - benign g.860784G>A - CFD(NM_001928.2):c.212+11G>A - CFD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4688G>C r.(=) p.(=) Unknown - benign g.860852G>C g.860852G>C CFD(NM_001928.4):c.213-9G>C - CFD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4688G>C r.(=) p.(=) Unknown - benign g.860852G>C g.860852G>C CFD(NM_001928.4):c.213-9G>C - CFD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4850C>G r.(=) p.(=) Unknown - likely benign g.861014C>G g.861014C>G CFD(NM_001928.2):c.357+9C>G - CFD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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