Full data view for gene KANSL1

Information The variants shown are described using the NM_001193466.1 transcript reference sequence.

164 entries on 2 pages. 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.-34472T>G r.(?) p.(=) Unknown - VUS g.44304167A>C - KANSL1(NM_001193465.2):c.-1684T>G - KANSL1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-34467_-34466insG r.(?) p.(=) Unknown - VUS g.44304161_44304162insC - KANSL1(NM_001193465.2):c.-1679_-1678insG - KANSL1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34467_-34466insGT r.(?) p.(=) Unknown - likely benign g.44304162_44304163insCA - KANSL1(NM_001193465.2):c.-1679_-1678insGT - KANSL1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-31417A>T r.(?) p.(?) Unknown - benign g.44301112T>A g.46223746T>A NM_001193465.1:c.-165A>T - KANSL1_000008 - PubMed: Koolen 2012 - rs402970 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.-23450C>T r.(?) p.(=) Unknown - VUS g.44293145G>A - KANSL1(NM_001193465.2):c.-90+7892C>T - KANSL1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20168C>T r.(?) p.(=) Unknown - likely benign g.44289863G>A - KANSL1(NM_001193465.2):c.-90+11174C>T - KANSL1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-90+8845T>C r.(=) p.(=) Unknown - likely benign g.44260940A>G - KANSL1(NM_015443.4):c.-90+9249T>C - KANSL1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.-89-23T>C r.(?) p.(?) Unknown - benign g.44249621A>G g.46172255A>G - - KANSL1_000009 - PubMed: Koolen 2012 - rs2696662 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.0 r.0 p.0 Unknown - pathogenic g.(?_44108841)_(44249509_?)del - - - KANSL1_000000 0.63 Mb deletion 17q21.31 incl. KANSL1; association with phenotype uncertain Journal: O'Rawe 2015 - - Unknown - - - - - DNA arraySNP - - ID - Journal: O'Rawe 2015 4-generation family, 6 affected, 5 unaffected heterozygous carrier females M - Albania - >16y - - - 6 Johan den Dunnen
+/. _1_15_ c.0 r.0 p.0 Unknown - pathogenic g.(?_44159803)_(44787924_?)del - - arr 17q21.31(44,159,803-44,787,924)x1 KANSL1_000000 deletion includes containing KANSL1, LRRC37A, ARL17B, and NSFP1 genes PubMed: O'Rawe 2016, Journal: O'Rawe 2016 - - De novo - - - - - DNA arraySNP, SEQ - - ID 26637982-Fam10PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 5 affected males, unaffected heterozygous carrier mothers M no Albania - - - - - 5 Johan den Dunnen
?/. - c.14C>T r.(?) p.(Ala5Val) Unknown - VUS g.44249496G>A - KANSL1(NM_001193466.2):c.14C>T (p.A5V) - KANSL1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Ala11Thr) Unknown - VUS g.44249479C>T g.46172113C>T KANSL1(NM_001193465.1):c.31G>A (p.(Ala11Thr)) - KANSL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73C>G r.(?) p.(Pro25Ala) Unknown - VUS g.44249437G>C - KANSL1(NM_001193466.1):c.73C>G (p.P25A) - KANSL1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286T>C r.(?) p.(=) Unknown - likely benign g.44249224A>G - KANSL1(NM_001193466.2):c.286T>C (p.L96=), KANSL1(NM_015443.4):c.286T>C (p.(Leu96=)) - KANSL1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286T>C r.(?) p.(=) Unknown - likely benign g.44249224A>G - KANSL1(NM_001193466.2):c.286T>C (p.L96=), KANSL1(NM_015443.4):c.286T>C (p.(Leu96=)) - KANSL1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.297_307del r.(?) p.(Gly100GlnfsTer6) Unknown - pathogenic g.44249205_44249215del - KANSL1(NM_001193466.2):c.297_307delAGGGGTCTTCA (p.G100Qfs*6) - KANSL1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299G>A r.(?) p.(Gly100Glu) Unknown ACMG VUS g.44249211C>T g.46171845C>T - - KANSL1_000087 ACMG grading: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
-/. 2 c.311A>C r.(?) p.(Lys104Thr) Unknown - benign g.44249199T>G g.46171833T>G - - KANSL1_000010 - PubMed: Koolen 2012 - rs17585974 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.311A>C r.(?) p.(Lys104Thr) Unknown - benign g.44249199T>G g.46171833T>G - - KANSL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.414T>G r.(?) p.(=) Unknown - benign g.44249096A>C g.46171730A>C - - KANSL1_000011 - PubMed: Koolen 2012 - rs17662889 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.414T>G r.(?) p.(Leu138=) Unknown - benign g.44249096A>C g.46171730A>C - - KANSL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.468_472del r.(?) p.(Leu157Ter) Unknown - likely pathogenic g.44249041_44249045del g.46171675_46171679del - - KANSL1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477G>T r.(?) p.(Lys159Asn) Unknown - likely benign g.44249033C>A - KANSL1(NM_015443.4):c.477G>T (p.(Lys159Asn)) - KANSL1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>G r.(?) p.(Asn177Ser) Unknown ACMG VUS g.44248980T>C - - - KANSL1_000094 - PubMed: Dingemans 2021, Journal: Dingemans 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - KDVS Pat3 PubMed: Dingemans 2021, Journal: Dingemans 2021 - M - - - - - - - 1 Alexander Dingemans
+/. 2 c.531_540del r.(?) p.(Gly179Leufs*20) Unknown - pathogenic g.44248972_44248981del g.46171606_46171615del - - KANSL1_000037 - PubMed: Koolen 2016 - - De novo - - - - - DNA SEQ - - KDVS Pat#38 PubMed: Koolen 2016 - F no Australia - - - - - 1 David Amor
+/. - c.540del r.(?) p.(Lys180Asnfs*22) Unknown - pathogenic (dominant) g.44248970del - 540delA - KANSL1_000091 - PubMed: Keen 2017, Journal: Keen 2017 - - De novo - - - - - DNA SEQ-NG - ID panel KDVS patient PubMed: Keen 2017, Journal: Keen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Irish;English/Irish;German - - - - 1 Alexander Dingemans
?/. - c.566A>T r.(?) p.(His189Leu) Unknown - VUS g.44248944T>A - KANSL1(NM_015443.4):c.566A>T (p.(His189Leu)) - KANSL1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.572del r.(?) p.(Gly191Valfs*11) Unknown - pathogenic g.44248942del g.46171576del - - KANSL1_000040 - PubMed: Koolen 2016 - - De novo - - - - - DNA SEQ - - KDVS Pat#41 PubMed: Koolen 2016 - F no - - - - - - 1 David Koolen
-?/. - c.620A>G r.(?) p.(Asn207Ser) Unknown - likely benign g.44248890T>C g.46171524T>C KANSL1(NM_001193465.1):c.620A>G (p.(Asn207Ser)), KANSL1(NM_001193466.2):c.620A>G (p.N207S) - KANSL1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.620A>G r.(?) p.(Asn207Ser) Unknown - likely benign g.44248890T>C - KANSL1(NM_001193465.1):c.620A>G (p.(Asn207Ser)), KANSL1(NM_001193466.2):c.620A>G (p.N207S) - KANSL1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.635A>G r.(?) p.(His212Arg) Unknown - benign g.44248875T>C g.46171509T>C - - KANSL1_000012 - PubMed: Koolen 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.635A>G r.(?) p.(His212Arg) Unknown - likely benign g.44248875T>C - KANSL1(NM_001193466.2):c.635A>G (p.H212R) - KANSL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.662C>T r.(?) p.(Thr221Ile) Unknown - benign g.44248848G>A g.46171482G>A - - KANSL1_000013 - PubMed: Koolen 2012 - rs17662853 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.662C>T r.(?) p.(Thr221Ile) Unknown - benign g.44248848G>A g.46171482G>A KANSL1(NM_001193466.2):c.662C>T (p.T221I) - KANSL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.673A>G r.(?) p.(Asn225Asp) Unknown - benign g.44248837T>C g.46171471T>C - - KANSL1_000014 - PubMed: Koolen 2012 - rs35643216 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.673A>G r.(?) p.(Asn225Asp) Unknown - benign g.44248837T>C g.46171471T>C - - KANSL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Ser227Asn) Unknown - likely benign g.44248830C>T g.46171464C>T KANSL1(NM_001193465.1):c.680G>A (p.(Ser227Asn)), KANSL1(NM_001193466.2):c.680G>A (p.S227N) - KANSL1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>A r.(?) p.(Ser227Asn) Unknown - likely benign g.44248830C>T - KANSL1(NM_001193465.1):c.680G>A (p.(Ser227Asn)), KANSL1(NM_001193466.2):c.680G>A (p.S227N) - KANSL1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>T r.(?) p.(Ser227Ile) Unknown - VUS g.44248830C>A - KANSL1(NM_015443.3):c.680G>T (p.(Ser227Ile)) - KANSL1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695C>G r.(?) p.(Ser232Cys) Unknown - VUS g.44248815G>C g.46171449G>C KANSL1(NM_001193466.1):c.695C>G (p.S232C), KANSL1(NM_001193466.2):c.695C>G (p.S232C) - KANSL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695C>G r.(?) p.(Ser232Cys) Unknown - VUS g.44248815G>C - KANSL1(NM_001193466.1):c.695C>G (p.S232C), KANSL1(NM_001193466.2):c.695C>G (p.S232C) - KANSL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.696C>T r.(?) p.(=) Unknown - benign g.44248814G>A g.46171448G>A - - KANSL1_000015 - PubMed: Koolen 2012 - rs1881194 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.696C>T r.(?) p.(Ser232=) Unknown - benign g.44248814G>A g.46171448G>A - - KANSL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709A>G r.(?) p.(Met237Val) Unknown - VUS g.44248801T>C - KANSL1(NM_015443.3):c.709A>G (p.(Met237Val)) - KANSL1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.727C>A r.(?) p.(Gln243Lys) Unknown - benign g.44248783G>T g.46171417G>T KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K) - KANSL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727C>A r.(?) p.(Gln243Lys) Unknown - likely benign g.44248783G>T - KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K) - KANSL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727C>A r.(?) p.(Gln243Lys) Unknown - likely benign g.44248783G>T - KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K) - KANSL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.727C>T r.(?) p.(Gln243Ter) Unknown - VUS g.44248783G>A - KANSL1(NM_001193466.2):c.727C>T (p.Q243*), KANSL1(NM_015443.3):c.727C>T (p.(Gln243*)) - KANSL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.727C>T r.(?) p.(Gln243Ter) Unknown - VUS g.44248783G>A - KANSL1(NM_001193466.2):c.727C>T (p.Q243*), KANSL1(NM_015443.3):c.727C>T (p.(Gln243*)) - KANSL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.741A>G r.(?) p.(=) Unknown - benign g.44248769T>C g.46171403T>C - - KANSL1_000016 - PubMed: Koolen 2012 - rs1881193 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.741A>G r.(?) p.(Arg247=) Unknown - benign g.44248769T>C g.46171403T>C - - KANSL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.777_779del r.(?) p.(Gly260del) Unknown - VUS g.44248734_44248736del - KANSL1(NM_015443.3):c.777_779delGGG (p.(Gly260del)) - KANSL1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805C>T r.(?) p.(Pro269Ser) Unknown - likely benign g.44248705G>A - KANSL1(NM_015443.3):c.805C>T (p.(Pro269Ser)) - KANSL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.808_809del r.(?) p.(Leu270Valfs*11) Unknown - likely pathogenic g.44248701_44248702del g.46171335_46171336del different transcript: NM_015443.3:c.808_809del; p.L270Vfs - KANSL1_000065 - PubMed: Nair 2018 - rs551541795 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing KDVS ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/. 3 c.868C>T r.? p.(Arg290*) Unknown ACMG pathogenic g.44248642G>A g.46171276G>A - - KANSL1_000109 - - ClinVar-421289 rs149830411 De novo - - - - - DNA SEQ-NG-I peripheral blood CES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.876del - - Unknown - likely pathogenic (dominant) g.44248634del g.46171268del NM_015443.3:c.876del - KANSL1_000101 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2880.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.892G>A r.(?) p.(Ala298Thr) Unknown - VUS g.44248618C>T - KANSL1(NM_015443.4):c.892G>A (p.(Ala298Thr)) - KANSL1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896G>A r.(?) p.(Arg299His) Parent #1 - likely benign g.44248614C>T g.46171248C>T - - KANSL1_000084 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201785695 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.908_909del r.(?) p.(Lys303Thrfs*11) Unknown - pathogenic g.44248601_44248602del g.46171235_46171236del - - KANSL1_000043 - PubMed: Koolen 2016 - - Unknown - - - - - DNA SEQ - - KDVS Pat#45 PubMed: Koolen 2016 - F no - - - - - - 1 David Koolen
+/+ 2 c.916C>T r.916c>u p.Gln306* Unknown - pathogenic g.44248594G>A g.46171228G>A - - KANSL1_000003 - PubMed: Koolen 2012 - - De novo yes - - - - DNA SEQ - - KDVS Pat3, Pat#34 PubMed: Koolen 2012, PubMed: Koolen 2016 - M - - white - - - - 1 Giuseppe Marangi
+/. 2 c.985_986del r.(?) p.(leu329Glufs*22) Unknown - pathogenic g.44248525_44248526del g.46171159_46171160del - - KANSL1_000035 - PubMed: Koolen 2016 - - De novo - - - - - DNA SEQ - - KDVS Pat#36 PubMed: Koolen 2016 - M no - - - - - - 1 David Koolen
-/. 2 c.1011C>G r.(?) p.(Ser337=) Unknown - benign g.44248499G>C g.46171133G>C - - KANSL1_000017 - PubMed: Koolen 2012 - rs2240758 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1011C>G r.(?) p.(Ser337=) Unknown - benign g.44248499G>C g.46171133G>C KANSL1(NM_001193466.2):c.1011C>G (p.S337=) - KANSL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1011C>G r.(?) p.(Ser337=) Unknown - benign g.44248499G>C g.46171133G>C KANSL1(NM_001193466.2):c.1011C>G (p.S337=) - KANSL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1124C>T r.(?) p.(Ser375Leu) Unknown - likely benign g.44248386G>A - KANSL1(NM_001193466.2):c.1124C>T (p.S375L) - KANSL1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.1157G>T r.(?) p.(Ser386Ile) Maternal (confirmed) - benign g.44248353C>A g.46170987C>A - - KANSL1_000007 - PubMed: Koolen 2012 - - Germline no - - - - DNA SEQ - - KDVS Pat3, Pat#34 PubMed: Koolen 2012, PubMed: Koolen 2016 - M - - white - - - - 1 Giuseppe Marangi
-/. 2 c.1157G>T r.(?) p.(Ser386Ile) Parent #1 - benign g.44248353C>A g.46170987C>A - - KANSL1_000007 - PubMed: Koolen 2012 - - Germline no - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 mother of patient (22544363-Ind3), unaffected F - - white - - - - 1 Johan den Dunnen
-/. 2 c.1157G>T r.(?) p.(Ser386Ile) Unknown - benign g.44248353C>A g.46170987C>A - - KANSL1_000007 - PubMed: Koolen 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1157G>T r.(?) p.(Ser386Ile) Unknown - VUS g.44248353C>A g.46170987C>A KANSL1(NM_001193466.2):c.1157G>T (p.S386I) - KANSL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160G>A r.(?) p.(Gly387Asp) Unknown - likely benign g.44248350C>T g.46170984C>T - - KANSL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1213_1216dup r.(?) p.(Ser406LysfsTer2) Unknown - pathogenic g.44248294_44248297dup g.46170928_46170931dup KANSL1(NM_001193466.1):c.1213_1216dupAGTA (p.S406Kfs*2) - KANSL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1238T>A r.(?) p.(Ile413Asn) Unknown - VUS g.44248272A>T g.46170906A>T KANSL1(NM_001193465.1):c.1238T>A (p.(Ile413Asn)) - KANSL1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277G>C r.(?) p.(Arg426Pro) Unknown - VUS g.44248233C>G - KANSL1(NM_001193466.2):c.1277G>C (p.R426P) - KANSL1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1283dup r.(1283dup) p.(Pro429ThrfsTer30) Unknown ACMG likely pathogenic (dominant) g.44248227dup g.46170861dup - - KANSL1_000126 ACMG PVS1-very strong,PM2-supporting - - - Germline ? - - - - DNA SEQ-NG-I Blood - KDVS 342759 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.1289+4641dup r.(=) p.(=) Unknown - likely benign g.44243594dup - KANSL1(NM_015443.4):c.1289+4641dup - KANSL1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294C>T r.(?) p.(Arg432Cys) Unknown - VUS g.44172063G>A - KANSL1(NM_015443.3):c.1294C>T (p.(Arg432Cys)) - KANSL1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391G>A r.(?) p.(Arg464His) Unknown - VUS g.44171966C>T g.46094600C>T KANSL1(NM_001193465.1):c.1391G>A (p.(Arg464His)) - KANSL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.1432-80C>T r.(=) p.(=) Unknown - benign g.44159988G>A g.46082622G>A - - KANSL1_000018 - PubMed: Koolen 2012 - rs117188088 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
+/? 3i_15_ c.1432-?_(*1560_?)del r.? p.0? Unknown - pathogenic g.? - - - KANSL1_000005 deletion exons 14-15 MAPT and 4-15 KANSL1 PubMed: Koolen 2012 - - De novo yes - - - - DNA arraySNP, MLPA - - KDVS - PubMed: Koolen 2012 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.1448G>A r.(?) p.(Gly483Glu) Unknown ACMG VUS g.44159892C>T - - - KANSL1_000093 - PubMed: Dingemans 2021, Journal: Dingemans 2021 - - De novo - - - - - DNA SEQ-NG - ID panel KDVS Pat2 PubMed: Dingemans 2021, Journal: Dingemans 2021 - M yes - - - - - - 1 Alexander Dingemans
-?/. - c.1483T>G r.(?) p.(Phe495Val) Unknown - likely benign g.44159857A>C - KANSL1(NM_015443.3):c.1483T>G (p.(Phe495Val)) - KANSL1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.1491A>G r.(?) p.(=) Unknown - benign g.44159849T>C g.46082483T>C - - KANSL1_000019 - PubMed: Koolen 2012 - rs112628831 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1491A>G r.(?) p.(Pro497=) Unknown - benign g.44159849T>C g.46082483T>C - - KANSL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1493_1520del r.(?) p.(Leu498ArgfsTer5) Unknown ACMG pathogenic (dominant) g.44159820_44159847del g.46082454_46082481del - - KANSL1_000110 - - - - De novo - - - - - DNA SEQ-NG-I - WGS SCZD - - - F - - - - - - - 1 Camille Verebi
?/. - c.1561A>G r.(?) p.(Asn521Asp) Unknown - VUS g.44145006T>C - KANSL1(NM_001193466.2):c.1561A>G (p.N521D) - KANSL1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1574= r.(=) p.(Pro525=) Unknown - benign g.44144993C>G g.46067627= KANSL1(NM_001193466.2):c.1574G>C (p.R525P) - KANSL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1639_1646del r.(?) p.(Gly547*) Unknown - pathogenic g.44144923_44144930del g.46067557_46067564del - - KANSL1_000039 - PubMed: Koolen 2016 - - Unknown - - - - - DNA SEQ - - KDVS Pat#40 PubMed: Koolen 2016 - F no Australia - - - - - 1 David Koolen
+/+ 5i c.1652+1G>A r.1534_1652del p.Leu552Phefs*13 Unknown - pathogenic g.44144914C>T g.46067548C>T - - KANSL1_000004 - PubMed: Koolen 2012 - - De novo yes - - - - DNA SEQ - - KDVS Pat4, Pat#43 PubMed: Koolen 2012, PubMed: Koolen 2016 - M - - - - - - - 1 Giuseppe Marangi
+/. 5i c.1652+1G>A r.spl? p.(?) Unknown - pathogenic g.44144914C>T g.46067548C>T - - KANSL1_000004 - PubMed: Koolen 2016 - - De novo - - - - - DNA SEQ - - KDVS Pat#35 PubMed: Koolen 2016 - M no - - - - - - 1 David Koolen
-/. 5i c.1653-54A>G r.(?) p.(?) Unknown - benign g.44144152T>C g.46066786T>C - - KANSL1_000020 - PubMed: Koolen 2012 - rs62060798 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1653-3T>G r.spl? p.? Unknown - pathogenic g.44144101A>C g.46066735A>C - - KANSL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1726C>T r.(?) p.(Arg576Ter) Unknown - pathogenic g.44144025G>A g.46066659G>A - - KANSL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1738G>A r.(?) p.(Val580Ile) Parent #1 - likely benign g.44144013C>T g.46066647C>T - - KANSL1_000083 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117412152 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.1774C>T r.(?) p.(Arg592Trp) Unknown - VUS g.44143977G>A - KANSL1(NM_015443.4):c.1774C>T (p.(Arg592Trp)) - KANSL1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 6 c.1816C>T r.(?) p.(Arg606*) Unknown - VUS g.44143935G>A g.46066569G>A - - KANSL1_000001 not in 800 control chromosomes PubMed: Zollino 2012 - - De novo no - TaqI- - - DNA SEQ-NG-I - - KDVS - PubMed: Zollino 2012 - F - Italy - - - - - 1 Giuseppe Marangi
+/. - c.1816C>T r.(?) p.(Arg606*) Unknown - pathogenic g.44143935G>A - KANSL1(NM_001193466.1):c.1816C>T (p.R606*) - KANSL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1826G>A r.(?) p.(Ser609Asn) Unknown - likely benign g.44143925C>T g.46066559C>T KANSL1(NM_015443.3):c.1826G>A (p.(Ser609Asn)) - KANSL1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848+4G>A r.spl? p.? Unknown - likely benign g.44143899C>T - KANSL1(NM_001193466.2):c.1848+4G>A - KANSL1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.1849-55T>G r.(?) p.(?) Unknown - benign g.44128125A>C g.46050759A>C - - KANSL1_000021 - PubMed: Koolen 2012 - rs12150447 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Koolen 2012 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1867_1870del r.(?) p.(Ile623Alafs*6) Unknown - pathogenic g.44128049_44128052del g.46050683_46050686del - - KANSL1_000036 - PubMed: Koolen 2016 - - Unknown - - - - - DNA SEQ - - KDVS Pat#37 PubMed: Koolen 2016 - F no - - - - - - 1 David Koolen
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