Unique variants in the KANSL1 gene

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

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-31417A>T r.(?) p.(?) - benign g.44301112T>A g.46223746T>A NM_001193465.1:c.-165A>T - KANSL1_000008 - PubMed: Koolen 2012 - rs402970 Germline - - - - - Johan den Dunnen
-/. 1 1i c.-89-23T>C r.(?) p.(?) - benign g.44249621A>G g.46172255A>G - - KANSL1_000009 - PubMed: Koolen 2012 - rs2696662 Germline - - - - - Johan den Dunnen
+/. 2 _1_15_ c.0 r.0 p.0 - pathogenic g.(?_44108841)_(44249509_?)del, g.(?_44159803)_(44787924_?)del - - arr 17q21.31(44,159,803-44,787,924)x1 KANSL1_000000 0.63 Mb deletion 17q21.31 incl. KANSL1; association with phenotype uncertain, 1 more item Journal: O'Rawe 2015, PubMed: O'Rawe 2016, Journal: O'Rawe 2016 - - De novo, Unknown - - - - - Johan den Dunnen
?/. 1 - c.31G>A r.(?) p.(Ala11Thr) - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.297_307del r.(?) p.(Gly100GlnfsTer6) - pathogenic g.44249205_44249215del - KANSL1(NM_001193466.1):c.297_307delAGGGGTCTTCA (p.G100Qfs*6) - KANSL1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.299G>A r.(?) p.(Gly100Glu) ACMG VUS g.44249211C>T g.46171845C>T - - KANSL1_000087 ACMG grading: PM2,PP3 - - - Germline - - - - - Andreas Laner
-/. 2 2 c.311A>C r.(?) p.(Lys104Thr) - benign g.44249199T>G g.46171833T>G - - KANSL1_000010 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs17585974 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 2 2 c.414T>G r.(?) p.(=), p.(Leu138=) - benign g.44249096A>C g.46171730A>C - - KANSL1_000011 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs17662889 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.468_472del r.(?) p.(Leu157Ter) - likely pathogenic g.44249041_44249045del g.46171675_46171679del - - KANSL1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.530A>G r.(?) p.(Asn177Ser) ACMG VUS g.44248980T>C - - - KANSL1_000094 - PubMed: Dingemans 2021, Journal: Dingemans 2021 - - Germline/De novo (untested) - - - - - Alexander Dingemans
+/. 1 2 c.531_540del r.(?) p.(Gly179Leufs*20) - pathogenic g.44248972_44248981del g.46171606_46171615del - - KANSL1_000037 - PubMed: Koolen 2016 - - De novo - - - - - David Amor
+/. 1 - c.540del r.(?) p.(Lys180Asnfs*22) - pathogenic (dominant) g.44248970del - 540delA - KANSL1_000091 - PubMed: Keen 2017, Journal: Keen 2017 - - De novo - - - - - Alexander Dingemans
+/. 1 2 c.572del r.(?) p.(Gly191Valfs*11) - pathogenic g.44248942del g.46171576del - - KANSL1_000040 - PubMed: Koolen 2016 - - De novo - - - - - David Koolen
-?/. 2 - c.620A>G r.(?) p.(Asn207Ser) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 1 2 c.635A>G r.(?) p.(His212Arg) - benign g.44248875T>C g.46171509T>C - - KANSL1_000012 - PubMed: Koolen 2012 - - Germline - - - - - Johan den Dunnen
-/. 2 2 c.662C>T r.(?) p.(Thr221Ile) - benign g.44248848G>A g.46171482G>A KANSL1(NM_001193466.2):c.662C>T (p.T221I) - KANSL1_000013 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs17662853 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
-/. 2 2 c.673A>G r.(?) p.(Asn225Asp) - benign g.44248837T>C g.46171471T>C - - KANSL1_000014 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs35643216 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.680G>A r.(?) p.(Ser227Asn) - likely benign g.44248830C>T g.46171464C>T KANSL1(NM_001193465.1):c.680G>A (p.(Ser227Asn)) - KANSL1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.695C>G r.(?) p.(Ser232Cys) - VUS g.44248815G>C g.46171449G>C KANSL1(NM_001193466.1):c.695C>G (p.S232C) - KANSL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 2 c.696C>T r.(?) p.(=), p.(Ser232=) - benign g.44248814G>A g.46171448G>A - - KANSL1_000015 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs1881194 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/., -?/. 2 - c.727C>A r.(?) p.(Gln243Lys) - benign, likely benign g.44248783G>T g.46171417G>T KANSL1(NM_001193466.1):c.727C>A (p.Q243K) - KANSL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 2 c.741A>G r.(?) p.(=), p.(Arg247=) - benign g.44248769T>C g.46171403T>C - - KANSL1_000016 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs1881193 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.808_809del r.(?) p.(Leu270Valfs*11) - 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 ? - - - - LOVD
-?/. 1 - c.896G>A r.(?) p.(Arg299His) - 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 - - - Mohammed Faruq
+/. 1 2 c.908_909del r.(?) p.(Lys303Thrfs*11) - pathogenic g.44248601_44248602del g.46171235_46171236del - - KANSL1_000043 - PubMed: Koolen 2016 - - Unknown - - - - - David Koolen
+/+ 1 2 c.916C>T r.916c>u p.Gln306* - pathogenic g.44248594G>A g.46171228G>A - - KANSL1_000003 - PubMed: Koolen 2012 - - De novo yes - - - - Giuseppe Marangi
+/. 1 2 c.985_986del r.(?) p.(leu329Glufs*22) - pathogenic g.44248525_44248526del g.46171159_46171160del - - KANSL1_000035 - PubMed: Koolen 2016 - - De novo - - - - - David Koolen
-/. 3 2 c.1011C>G r.(?) p.(Ser337=) - benign g.44248499G>C g.46171133G>C KANSL1(NM_001193466.2):c.1011C>G (p.S337=) - KANSL1_000017 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs2240758 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/., ?/. 4 2 c.1157G>T r.(?) p.(Ser386Ile) - benign, VUS g.44248353C>A g.46170987C>A KANSL1(NM_001193466.2):c.1157G>T (p.S386I) - KANSL1_000007 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - - CLASSIFICATION record, Germline no - - - - Johan den Dunnen, Giuseppe Marangi, VKGL-NL_Groningen
-?/. 1 - c.1160G>A r.(?) p.(Gly387Asp) - likely benign g.44248350C>T g.46170984C>T - - KANSL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1213_1216dup r.(?) p.(Ser406LysfsTer2) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1238T>A r.(?) p.(Ile413Asn) - likely benign g.44248272A>T g.46170906A>T KANSL1(NM_001193465.1):c.1238T>A (p.(Ile413Asn)) - KANSL1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1391G>A r.(?) p.(Arg464His) - 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 - - - - - VKGL-NL_Leiden
-/. 1 3i c.1432-80C>T r.(=) p.(=) - benign g.44159988G>A g.46082622G>A - - KANSL1_000018 - PubMed: Koolen 2012 - rs117188088 Germline - - - - - Johan den Dunnen
+/? 1 3i_15_ c.1432-?_(*1560_?)del r.? p.0? - pathogenic g.? - - - KANSL1_000005 deletion exons 14-15 MAPT and 4-15 KANSL1 PubMed: Koolen 2012 - - De novo yes - - - - Johan den Dunnen
+?/. 1 - c.1448G>A r.(?) p.(Gly483Glu) ACMG VUS g.44159892C>T - - - KANSL1_000093 - PubMed: Dingemans 2021, Journal: Dingemans 2021 - - De novo - - - - - Alexander Dingemans
-/. 2 4 c.1491A>G r.(?) p.(=), p.(Pro497=) - benign g.44159849T>C g.46082483T>C - - KANSL1_000019 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs112628831 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 - c.1574= r.(=) p.(Pro525=) - benign g.44144993C>G g.46067627= KANSL1(NM_001193466.2):c.1574G>C (p.R525P) - KANSL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 5 c.1639_1646del r.(?) p.(Gly547*) - pathogenic g.44144923_44144930del g.46067557_46067564del - - KANSL1_000039 - PubMed: Koolen 2016 - - Unknown - - - - - David Koolen
+/+, +/. 2 5i c.1652+1G>A r.1534_1652del, r.spl? p.(?), p.Leu552Phefs*13 - pathogenic g.44144914C>T g.46067548C>T - - KANSL1_000004 - PubMed: Koolen 2012, PubMed: Koolen 2016 - - De novo yes - - - - Giuseppe Marangi, David Koolen
-/. 1 5i c.1653-54A>G r.(?) p.(?) - benign g.44144152T>C g.46066786T>C - - KANSL1_000020 - PubMed: Koolen 2012 - rs62060798 Germline - - - - - Johan den Dunnen
+/. 1 - c.1653-3T>G r.spl? p.? - pathogenic g.44144101A>C g.46066735A>C - - KANSL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1726C>T r.(?) p.(Arg576Ter) - pathogenic g.44144025G>A g.46066659G>A - - KANSL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1738G>A r.(?) p.(Val580Ile) - 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 - - - Mohammed Faruq
+/., ?/+? 2 6 c.1816C>T r.(?) p.(Arg606*) - pathogenic, VUS g.44143935G>A g.46066569G>A KANSL1(NM_001193466.1):c.1816C>T (p.R606*) - KANSL1_000001 not in 800 control chromosomes, VKGL data sharing initiative Nederland PubMed: Zollino 2012 - - CLASSIFICATION record, De novo no - TaqI- - - Giuseppe Marangi, VKGL-NL_Rotterdam
-/. 1 6i c.1849-55T>G r.(?) p.(?) - benign g.44128125A>C g.46050759A>C - - KANSL1_000021 - PubMed: Koolen 2012 - rs12150447 Germline - - - - - Johan den Dunnen
+/. 1 7 c.1867_1870del r.(?) p.(Ile623Alafs*6) - pathogenic g.44128049_44128052del g.46050683_46050686del - - KANSL1_000036 - PubMed: Koolen 2016 - - Unknown - - - - - David Koolen
+?/. 1 - c.2020+4A>G r.spl? p.? ACMG pathogenic g.44127895T>C - - - KANSL1_000095 - - - - De novo - - - - - Alexander Dingemans
-?/. 1 - c.2135C>T r.(?) p.(Pro712Leu) - likely benign g.44117136G>A g.46039770G>A KANSL1(NM_001193466.2):c.2135C>T (p.P712L) - KANSL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 8 c.2136G>A r.(?) p.(=) - benign g.44117135C>T g.46039769C>T - - KANSL1_000022 - PubMed: Koolen 2012 - rs2277613 Germline - - - - - Johan den Dunnen
-/. 2 8 c.2152T>C r.(?) p.(Ser718Pro) - benign g.44117119A>G g.46039753A>G - - KANSL1_000023 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs117312607 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.2159G>A r.(?) p.(Arg720His) - VUS g.44117112C>T - KANSL1(NM_001193466.1):c.2159G>A (p.R720H) - KANSL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 8i c.2203+75G>A r.(?) p.(?) - benign g.44116993C>T g.46039627C>T - - KANSL1_000024 - PubMed: Koolen 2012 - - Germline - - - - - Johan den Dunnen
+/? 1 8i_15_ c.2204-?_(*1560_?)del r.? p.0? - pathogenic g.? - - - KANSL1_000006 deletion exons 3-15 MAPT and 9-15 KANSL1 PubMed: Koolen 2012 - - De novo yes - - - - Johan den Dunnen
+/. 1 - c.2251_2252del r.(?) p.(Leu751ArgfsTer29) - pathogenic g.44116533_44116534del g.46039167_46039168del KANSL1(NM_001193466.1):c.2251_2252delTT (p.L751Rfs*29) - KANSL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.2253dup r.(?) p.(Asp752ArgfsTer29) - pathogenic g.44116532dup g.46039166dup KANSL1(NM_001193466.1):c.2253dupA (p.D752Rfs*29) - KANSL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 9i c.2392+81A>G r.(?) p.(?) - benign g.44116312T>C g.46038946T>C - - KANSL1_000025 - PubMed: Koolen 2012 - rs62062136 Germline - - - - - Johan den Dunnen
-?/. 1 - c.2393-5T>C r.spl? p.? - likely benign g.44116057A>G g.46038691A>G KANSL1(NM_001193465.1):c.2393-5T>C (p.(=)) - KANSL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2393-2A>G r.spl? p.? - likely pathogenic g.44116054T>C - KANSL1(NM_001193466.1):c.2393-2A>G - KANSL1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2494T>C r.(?) p.(Ser832Pro) - likely benign g.44115951A>G g.46038585A>G KANSL1(NM_001193466.2):c.2494T>C (p.S832P) - KANSL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2510G>T r.(?) p.(Ser837Ile) - VUS g.44115935C>A g.46038569C>A KANSL1(NM_001193466.2):c.2510G>T (p.S837I) - KANSL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 10i c.2541+18G>A r.(=), r.(?) p.(=), p.(?) - benign g.44115886C>T g.46038520C>T - - KANSL1_000026 VKGL data sharing initiative Nederland PubMed: Koolen 2012 - rs12150090 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/., ?/. 2 - c.2542-3C>A r.(2546_2548del), r.spl? p.(Gln848del), p.? ACMG likely pathogenic, VUS g.44111654G>T g.46034288G>T 2543-3C>A - KANSL1_000060, KANSL1_000092 VKGL data sharing initiative Nederland PubMed: Dingemans 2021, Journal: Dingemans 2021 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Nijmegen, Alexander Dingemans
-/. 1 11 c.2577T>C r.(?) p.(=) - benign g.44111616A>G g.46034250A>G - - KANSL1_000027 1 more item PubMed: Koolen 2012 - rs17574604 Germline - - - - - Johan den Dunnen
-/. 1 - c.2580T>C r.(?) p.(Phe860=) - benign g.44111613A>G g.46034247A>G - - KANSL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 11i c.2664-62T>A r.(?) p.(?) - benign g.44111591A>T g.46034225A>T - - KANSL1_000028 1 more item PubMed: Koolen 2012 - rs77009866 Germline - - - - - Johan den Dunnen
+?/. 1 - c.2667-1G>A r.(?) p.(?) - likely pathogenic g.44110827C>T - - - KANSL1_000088 - - - - Unknown - - - - - IMGAG
+/. 1 12 c.2699_2702dup r.(?) p.(Ser901Argfs*4) - pathogenic g.44110792_44110795dup g.46033426_46033429dup - - KANSL1_000041 - PubMed: Koolen 2016 - - De novo - - - - - David Amor
+/. 1 12i c.2725-1G>C r.spl? p.(?) - pathogenic g.44110559C>G g.46033193C>G - - KANSL1_000038 - PubMed: Koolen 2016 - - De novo - - - - - David Koolen
-/. 1 13 c.2739C>T r.(?) p.(=) - benign g.44110544G>A g.46033178G>A - - KANSL1_000029 - PubMed: Koolen 2012 - rs35833914 Germline - - - - - Johan den Dunnen
-?/. 1 - c.2740G>A r.(?) p.(Asp914Asn) - likely benign g.44110543C>T g.46033177C>T - - KANSL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2742C>T r.(?) p.(Asp914=) - benign g.44110541G>A g.46033175G>A - - KANSL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 13 c.2748C>T r.(?) p.(=) - benign g.44110535G>A g.46033169G>A - - KANSL1_000030 - PubMed: Koolen 2012 - rs36076725 Germline - - - - - Johan den Dunnen
-/. 1 - c.2751C>T r.(?) p.(Phe917=) - benign g.44110532G>A g.46033166G>A - - KANSL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 13 c.2776A>G r.(?) p.(Met926Val) - benign g.44110507T>C g.46033141T>C - - KANSL1_000031 1 more item PubMed: Koolen 2012 - - Germline - - - - - Johan den Dunnen
?/+? 1 13 c.2785_2786del r.(?) p.(Arg929Glyfs*44) - VUS g.44110500_44110501del g.46033134_46033135del - - KANSL1_000002 not in 800 control chromosomes PubMed: Zollino 2012 - - De novo no - - - - Giuseppe Marangi
+?/. 1 - c.2837+4A>G r.spl? p.? - likely pathogenic g.44110442T>C g.46033076T>C - - KANSL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2939dup r.(?) p.(Leu980PhefsTer11) - pathogenic g.44109566dup g.46032200dup KANSL1(NM_001193466.1):c.2939dupT (p.L980Ffs*11) - MAPT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 14 c.2946C>T r.(?) p.(=) - benign g.44109557G>A g.46032191G>A - - KANSL1_000032 1 more item PubMed: Koolen 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2997del r.(?) p.(Ala1000HisfsTer14) - pathogenic g.44109506del g.46032140del KANSL1(NM_001193466.1):c.2997delA (p.A1000Hfs*14) - MAPT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 14 c.3026C>T r.(?) p.(Pro1009Leu) - benign g.44109477G>A g.46032111G>A - - KANSL1_000033 - PubMed: Koolen 2012 - rs7220988 Germline - - - - - Johan den Dunnen
-/. 1 - c.3029C>T r.(?) p.(Pro1010Leu) - benign g.44109474G>A g.46032108G>A KANSL1(NM_001193466.2):c.3029C>T (p.P1010L) - KANSL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.3031C>T r.(?) p.(Arg1011Ter) - pathogenic g.44109472G>A - KANSL1(NM_001193466.1):c.3031C>T (p.R1011*) - MAPT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.3053C>T r.(?) p.(Thr1018Ile) - likely benign g.44109450G>A g.46032084G>A KANSL1(NM_001193465.1):c.3050C>T (p.(Thr1017Ile)) - MAPT_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3091-4A>G r.spl? p.? - likely benign g.44109073T>C - KANSL1(NM_001193466.2):c.3091-4A>G - MAPT_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 15 c.3125del r.(?) p.(leu1042Argfs*71) - pathogenic g.44109035del g.46031669del - - KANSL1_000042 - PubMed: Koolen 2016 - - De novo - - - - - David Koolen
+?/. 1 - c.3169C>T r.(?) p.(Gln1057*) - likely pathogenic g.44108991G>A - - - MAPT_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 15 c.3251T>C r.(?) p.(Ile1084Thr) - benign g.44108909A>G g.46031543A>G - - KANSL1_000034 1 more item PubMed: Koolen 2012 - rs34579536 Germline - - - - - Johan den Dunnen
-/. 1 - c.3254T>C r.(?) p.(Ile1085Thr) - benign g.44108906A>G g.46031540A>G - - KANSL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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