Full data view for gene ILK

Information The variants shown are described using the NM_004517.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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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.61G>C r.(?) p.(Asp21His) Unknown - VUS g.6625562G>C g.6604332G>C - - RRP8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65A>G r.(?) p.(Asn22Ser) Unknown - likely benign g.6625566A>G g.6604336A>G ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S) - ILK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65A>G r.(?) p.(Asn22Ser) Unknown - likely benign g.6625566A>G g.6604336A>G ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S) - ILK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65A>G r.(?) p.(Asn22Ser) Unknown - likely benign g.6625566A>G g.6604336A>G ILK(NM_001014795.2):c.65A>G (p.N22S), ILK(NM_001014795.3):c.65A>G (p.N22S) - ILK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78C>A r.(?) p.(Asp26Glu) Unknown - VUS g.6625579C>A g.6604349C>A ILK(NM_001014795.3):c.78C>A (p.D26E) - RRP8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94G>A r.(?) p.(Asp32Asn) Unknown - VUS g.6629280G>A g.6608050G>A ILK(NM_001014795.2):c.94G>A (p.D32N) - RRP8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.157T>A r.(?) p.(Leu53Met) Unknown - pathogenic (dominant) g.6629343T>A g.6608113T>A - - ILK_000004 probable sporadic (not confirmed) PubMed: Park 2019 - - Unknown - 0.035 - - - DNA SEQ - direct sequencing EVR;FEVR - PubMed: Park 2019 unknown individual/phenotype info (probable sporadic case but not confirmed) - - - - - - - - 1 Jasmine Chen
?/. - c.157T>A r.(?) p.(Leu53Met) Unknown - VUS g.6629343T>A - ILK(NM_004517.2):c.157T>A (p.L53M) - ILK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>T r.(?) p.(Arg56Leu) Unknown - VUS g.6629353G>T g.6608123G>T ILK(NM_001014795.3):c.167G>T (p.R56L) - RRP8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>T r.(?) p.(Arg56Leu) Unknown - VUS g.6629353G>T - ILK(NM_001014795.3):c.167G>T (p.R56L) - RRP8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190A>C r.(?) p.(Asn64His) Unknown - VUS g.6629376A>C - ILK(NM_001014795.3):c.190A>C (p.N64H) - ILK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277A>G r.(?) p.(Ile93Val) Unknown - VUS g.6629645A>G g.6608415A>G - - ILK_000032 variant not definitively linked to disease Fusco 2042, submitted - rs777569798 Germline - - - - - DNA SEQ-NG blood - CM Fam131Pat150 Fusco 2042, submitted - M - Italy white - - - - 1 Carmela Fusco
-?/. - c.282T>C r.(?) p.(Asn94=) Unknown - likely benign g.6629650T>C - ILK(NM_004517.2):c.282T>C (p.N94=) - ILK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297C>T r.(?) p.(His99=) Unknown - benign g.6629665C>T g.6608435C>T ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=) - ILK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297C>T r.(?) p.(His99=) Unknown - benign g.6629665C>T - ILK(NM_004517.2):c.297C>T (p.H99=), ILK(NM_004517.4):c.297C>T (p.H99=) - ILK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.352-4C>G r.spl? p.? Unknown - likely benign g.6629920C>G - ILK(NM_004517.2):c.352-4C>G - ILK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435A>C r.(?) p.(Arg145Ser) Unknown - likely benign g.6630007A>C - ILK(NM_001014795.3):c.435A>C (p.R145S) - ILK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.448+13del r.(=) p.(=) Unknown - benign g.6630033del - ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC - TAF10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448+13del r.(=) p.(=) Unknown - likely benign g.6630033del - ILK(NM_001014795.3):c.448+13delC, ILK(NM_004517.2):c.448+13delC - TAF10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-6C>T r.(=) p.(=) Unknown - benign g.6630109C>T g.6608878C>T ILK(NM_004517.2):c.449-6C>T - ILK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449-1G>C r.spl? p.? Unknown - VUS g.6630114G>C g.6608883G>C ILK(NM_004517.2):c.449-1G>C - TAF10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(Glu153Gly) Unknown - VUS g.6630124A>G g.6608893A>G ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly)) - ILK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(Glu153Gly) Unknown - VUS g.6630124A>G g.6608893A>G ILK(NM_001014794.2):c.458A>G (p.(Glu153Gly)) - ILK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.466G>A r.(?) p.(Gly156Ser) Unknown - VUS g.6630132G>A g.6608901G>A - - ILK_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - SUD - - - F - Denmark - 01y - - - 1 Sofie Lindgren Christiansen
?/. - c.466G>A r.(?) p.(Gly156Ser) Unknown - VUS g.6630132G>A g.6608901G>A ILK(NM_004517.4):c.466G>A (p.G156S) - ILK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466G>A r.(?) p.(Gly156Ser) Unknown - VUS g.6630132G>A - ILK(NM_004517.4):c.466G>A (p.G156S) - ILK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518C>T r.(?) p.(Thr173Ile) Unknown - likely benign g.6630184C>T g.6608953C>T ILK(NM_001014794.2):c.518C>T (p.(Thr173Ile)) - TAF10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521G>A r.(?) p.(Arg174His) Unknown - VUS g.6630187G>A g.6608956G>A ILK(NM_001014795.3):c.521G>A (p.R174H) - TAF10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551A>C r.(?) p.(Lys184Thr) Unknown - VUS g.6630320A>C g.6609089A>C ILK(NM_001014795.3):c.551A>C (p.K184T) - ILK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551A>C r.(?) p.(Lys184Thr) Unknown - VUS g.6630320A>C g.6609089A>C ILK(NM_001014795.3):c.551A>C (p.K184T) - ILK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580A>G r.(?) p.(Asn194Asp) Unknown - VUS g.6630349A>G g.6609118A>G ILK(NM_001014795.3):c.580A>G (p.N194D) - ILK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595C>T r.(?) p.(Leu199Phe) Unknown - VUS g.6630364C>T g.6609133C>T ILK(NM_001014795.3):c.595C>T (p.L199F) - TAF10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.618+23T>C r.(=) p.(=) Unknown - benign g.6630410T>C g.6609179T>C ILK(NM_004517.2):c.618+23T>C - TAF10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.619-6C>T r.(=) p.(=) Unknown - likely benign g.6630524C>T g.6609293C>T ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T - ILK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.619-6C>T r.(=) p.(=) Unknown - likely benign g.6630524C>T - ILK(NM_001014795.3):c.619-6C>T, ILK(NM_004517.2):c.619-6C>T - ILK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.631C>T r.(?) p.(Arg211Cys) Unknown - VUS g.6630542C>T g.6609311C>T - - ILK_000001 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs140322345 Germline ? - - - - DNA SEQ-NG-I - - SIDS SIDS055 PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland Europe 00y02m - - - 1 Cordula Haas
-?/. - c.631C>T r.(?) p.(Arg211Cys) Unknown - likely benign g.6630542C>T g.6609311C>T ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C) - ILK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.631C>T r.(?) p.(Arg211Cys) Unknown - likely benign g.6630542C>T g.6609311C>T ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C) - ILK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.631C>T r.(?) p.(Arg211Cys) Unknown - likely benign g.6630542C>T g.6609311C>T ILK(NM_001014795.3):c.631C>T (p.R211C), ILK(NM_004517.2):c.631C>T (p.R211C) - ILK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.631C>T r.(?) p.(Arg211Cys) Unknown - VUS g.6630542C>T g.6609311C>T - - ILK_000001 cohort mostly consisting of sporadic cases (not confirmed) PubMed: Park 2019 - - De novo - 0.084 - - - DNA SEQ - direct sequencing EVR;FEVR - PubMed: Park 2019 unknown phenotype/individual information (suggested sporadic, but not confirmed) ? ? - - - - - - 1 Jasmine Chen
?/. - c.647A>G r.(?) p.(Asp216Gly) Unknown - VUS g.6630558A>G - ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G) - ILK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647A>G r.(?) p.(Asp216Gly) Unknown - VUS g.6630558A>G - ILK(NM_004517.2):c.647A>G (p.D216G), ILK(NM_004517.4):c.647A>G (p.D216G) - ILK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655G>A r.(?) p.(Val219Met) Unknown - VUS g.6630566G>A g.6609335G>A ILK(NM_001014795.3):c.655G>A (p.V219M) - ILK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.690_693del r.(?) p.(Lys231AlafsTer23) Unknown - VUS g.6630601_6630604del - ILK(NM_004517.2):c.690_693delGAAG (p.K231Afs*23) - ILK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707A>G r.(?) p.(Asn236Ser) Unknown - likely benign g.6630618A>G g.6609387A>G ILK(NM_001014795.3):c.707A>G (p.N236S) - ILK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721C>T r.(?) p.(Arg241Trp) Unknown - VUS g.6630632C>T g.6609401C>T ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W) - TAF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721C>T r.(?) p.(Arg241Trp) Unknown - VUS g.6630632C>T g.6609401C>T ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W) - TAF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.721C>T r.(?) p.(Arg241Trp) Unknown - VUS g.6630632C>T g.6609401C>T ILK(NM_001014795.3):c.721C>T (p.R241W), ILK(NM_004517.2):c.721C>T (p.R241W) - TAF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.728+13G>A r.(=) p.(=) Unknown - likely benign g.6630652G>A g.6609421G>A ILK(NM_001014795.3):c.728+13G>A - ILK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.728+27G>C r.(=) p.(=) Unknown - benign g.6630666G>C g.6609435G>C ILK(NM_004517.2):c.728+27G>C - ILK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.818C>T r.(?) p.(Pro273Leu) Unknown - VUS g.6630832C>T g.6609601C>T ILK(NM_001014795.3):c.818C>T (p.P273L) - TAF10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.819G>A r.(?) p.(Pro273=) Unknown - benign g.6630833G>A g.6609602G>A ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=) - ILK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.819G>A r.(?) p.(Pro273=) Unknown - benign g.6630833G>A - ILK(NM_004517.2):c.819G>A (p.P273=), ILK(NM_004517.4):c.819G>A (p.P273=) - ILK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.857-12G>A r.(=) p.(=) Unknown - benign g.6630943G>A g.6609712G>A ILK(NM_001014795.3):c.857-12G>A - TAF10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(?) p.(Val288=) Unknown - likely benign g.6630962C>T g.6609731C>T ILK(NM_001014795.3):c.864C>T (p.V288=) - ILK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.918C>T r.(?) p.(Ala306=) Unknown - benign g.6631016C>T g.6609785C>T ILK(NM_004517.2):c.918C>T (p.A306=) - ILK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927C>T r.(?) p.(His309=) Unknown - likely benign g.6631025C>T g.6609794C>T ILK(NM_001014795.3):c.927C>T (p.H309=) - ILK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.950G>A r.(?) p.(Arg317Gln) Unknown - pathogenic (dominant) g.6631048G>A g.6609817G>A - - ILK_000003 most cases sporadic in cohort (not confirmed) 0.0016% frequency ExAC - - - Unknown - - - - - DNA SEQ - direct sequencing EVR;FEVR - PubMed: Park 2019 unknown individual/phenotype information (probable sporadic, not confirmed) ? ? - - - - - - 1 Jasmine Chen
-?/. - c.962A>G r.(?) p.(Asn321Ser) Unknown - likely benign g.6631060A>G g.6609829A>G ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S) - TAF10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962A>G r.(?) p.(Asn321Ser) Unknown - VUS g.6631060A>G g.6609829A>G ILK(NM_001014795.2):c.962A>G (p.N321S), ILK(NM_001014795.3):c.962A>G (p.N321S) - TAF10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962A>G r.(?) p.(Asn321Ser) Unknown - VUS g.6631060A>G g.6609829A>G - - TAF10_000009 variant not definitively linked to disease Fusco 2042, submitted - rs570806647 Germline - - - - - DNA SEQ-NG blood - CM Fam185Pat198 Fusco 2042, submitted - M - Italy white - - - - 1 Carmela Fusco
?/. - c.968G>A r.(?) p.(Arg323His) Unknown - VUS g.6631066G>A - ILK(NM_004517.4):c.968G>A (p.R323H) - ILK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046G>A r.(?) p.(Arg349His) Unknown - likely benign g.6631234G>A g.6610003G>A ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H) - TAF10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046G>A r.(?) p.(Arg349His) Unknown - VUS g.6631234G>A g.6610003G>A ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H) - TAF10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046G>A r.(?) p.(Arg349His) Unknown - VUS g.6631234G>A - ILK(NM_001014795.3):c.1046G>A (p.R349H), ILK(NM_004517.2):c.1046G>A (p.R349H) - TAF10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079-18C>T r.(=) p.(=) Unknown - benign g.6631361C>T g.6610130C>T ILK(NM_004517.2):c.1079-18C>T - ILK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079-18C>T r.(=) p.(=) Unknown - benign g.6631361C>T g.6610130C>T ILK(NM_004517.2):c.1079-18C>T - ILK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079-10A>C r.(=) p.(=) Unknown - benign g.6631369A>C g.6610138A>C ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C - ILK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079-10A>C r.(=) p.(=) Unknown - likely benign g.6631369A>C g.6610138A>C ILK(NM_001014795.3):c.1079-10A>C, ILK(NM_004517.2):c.1079-10A>C - ILK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1086G>C r.(?) p.(Gln362His) Unknown - VUS g.6631386G>C - ILK(NM_004517.2):c.1086G>C (p.Q362H) - ILK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1136C>T r.(?) p.(Ala379Val) Unknown - VUS g.6631436C>T - ILK(NM_004517.2):c.1136C>T (p.A379V) - ILK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-4G>A r.spl? p.? Unknown - likely benign g.6631689G>A g.6610458G>A - - TAF10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210-2A>G r.spl? p.? Unknown - VUS g.6631691A>G g.6610460A>G ILK(NM_001014795.3):c.1210-2A>G - ILK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1348C>A r.(?) p.(Gln450Lys) Unknown - VUS g.6631831C>A - ILK(NM_004517.2):c.1348C>A (p.Q450K) - ILK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1508G>A r.(=) p.(=) Unknown - likely benign g.6633350G>A g.6612119G>A TAF10(NM_006284.3):c.71C>T (p.(Ala24Val)) - TAF10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3974G>C r.(=) p.(=) Unknown - likely benign g.6635816G>C g.6614585G>C TPP1(NM_000391.3):c.1653C>G (p.P551=) - TPP1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4029C>T r.(=) p.(=) Unknown - VUS g.6635871C>T g.6614640C>T TPP1(NM_000391.4):c.1598G>A (p.G533D) - TPP1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4084G>A r.(=) p.(=) Unknown - likely benign g.6635926G>A g.6614695G>A TPP1(NM_000391.3):c.1552-9C>T - TAF10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4263G>A r.(=) p.(=) Unknown - VUS g.6636105G>A g.6614874G>A TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe)) - TPP1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4263G>A r.(=) p.(=) Unknown - likely benign g.6636105G>A g.6614874G>A TPP1(NM_000391.3):c.1543C>T (p.(Leu515Phe)) - TPP1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4264T>A r.(=) p.(=) Unknown - benign g.6636106T>A g.6614875T>A TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=) - TPP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4264T>A r.(=) p.(=) Unknown - benign g.6636106T>A g.6614875T>A TPP1(NM_000391.3):c.1542A>T (p.G514=), TPP1(NM_000391.4):c.1542A>T (p.G514=) - TPP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4312G>A r.(=) p.(=) Unknown - likely benign g.6636154G>A - TPP1(NM_000391.3):c.1494C>T (p.P498=) - TAF10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4326G>A r.(=) p.(=) Unknown - VUS g.6636168G>A g.6614937G>A TPP1(NM_000391.4):c.1480C>T (p.L494F) - TAF10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4386A>G r.(=) p.(=) Unknown - likely benign g.6636228A>G g.6614997A>G TPP1(NM_000391.3):c.1426-6T>C - TAF10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4390T>C r.(=) p.(=) Unknown - likely benign g.6636232T>C - TPP1(NM_000391.3):c.1426-10A>G - ILK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4444T>C r.(=) p.(=) Unknown - benign g.6636286T>C g.6615055T>C TPP1(NM_000391.4):c.1426-64A>G - TPP1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4588A>C r.(=) p.(=) Unknown - pathogenic g.6636430A>C g.6615199A>C TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G) - TPP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4588A>C r.(=) p.(=) Unknown - likely pathogenic g.6636430A>C g.6615199A>C TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G) - TPP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4588A>C r.(=) p.(=) Unknown - pathogenic g.6636430A>C - TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G) - TPP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4588A>C r.(=) p.(=) Unknown - pathogenic g.6636430A>C - TPP1(NM_000391.3):c.1397T>G (p.V466G), TPP1(NM_000391.4):c.1397T>G (p.V466G) - TPP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4589C>T r.(=) p.(=) Unknown - likely benign g.6636431C>T - TPP1(NM_000391.4):c.1396G>A (p.V466M) - TAF10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4602C>T r.(=) p.(=) Unknown - likely benign g.6636444C>T g.6615213C>T TPP1(NM_000391.4):c.1383G>A (p.V461=) - TPP1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4657T>C r.(=) p.(=) Unknown - VUS g.6636499T>C g.6615268T>C TPP1(NM_000391.4):c.1328A>G (p.N443S) - TAF10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4826C>T r.(=) p.(=) Unknown - likely benign g.6636668C>T g.6615437C>T TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A - TPP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4826C>T r.(=) p.(=) Unknown - likely benign g.6636668C>T g.6615437C>T TPP1(NM_000391.3):c.1266+5G>A (p.?), TPP1(NM_000391.4):c.1266+5G>A - TPP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4844C>T r.(=) p.(=) Unknown - benign g.6636686C>T g.6615455C>T TPP1(NM_000391.3):c.1253G>A (p.R418Q) - TAF10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4845G>A r.(=) p.(=) Unknown - VUS g.6636687G>A g.6615456G>A TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp)) - TAF10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4845G>A r.(=) p.(=) Unknown - VUS g.6636687G>A - TPP1(NM_000391.3):c.1252C>T (p.R418W), TPP1(NM_000391.4):c.1252C>T (p.(Arg418Trp)) - TAF10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4879A>G r.(=) p.(=) Unknown - likely benign g.6636721A>G g.6615490A>G TPP1(NM_000391.3):c.1218T>C (p.Y406=) - TAF10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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