Unique variants in gene TCF4

Information The variants shown are described using the NM_001083962.1 transcript reference sequence.

148 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 _1_10i c.(?_-612)_789+?del - r.0? p.0? g.? - del ex1-10 - TCF4_000008 0.5 Mb deletion PubMed: Brockschmidt 2007 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.? - r.? p.? g.? - t(14;18)(q13.1;q21.2) - TCF4_000000 translocation chromosomes 14;20 PubMed: Marangi 2011 - - De novo - - - - - Irina Giurgea
./. 1 _1_20_ c.-24759932_*4532602del - r.0? p.0? g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
-/. 1 - c.-387del benign r.(=) p.(=) g.53255635del - TCF4:c.-387delT - TCF4_000132 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 21 _1_20_ c.(?_-1)_(*1_?)del - r.0?, r.0 p.0?, p.0 g.?, g.(38100000_38400000)_(50200000_57600000)del, g.(51000000_51994667)_(58706460_59000000)del, 2 more items - del RP11-397A16, g.50552638_517423685, del 18q21.1-q22.3, hg18? g.50248665_56248665, large del, 3 more items 18q21.1-q22.1del, 18q21.2-q22.1del TCF4_000000, TCF4_000009, TCF4_000015, TCF4_000016 1.8 Mb deletion, 1.2 Mb deletion, 6.2 Mb deletion, >13 Mb deletion, >10 Mb deletion, del 11 Mb, 8 more items PubMed: Amiel 2007, PubMed: Zweier 2007; PubMed: Peippo 2006, PubMed: Andrieux 2008, Gustavsson, 5 more items - - De novo, Somatic - - - - - Johan den Dunnen, Irina Giurgea
+/. 1 3i c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1) pathogenic r.? p.? g.pter_cen_(53131369_53252510)::NC_000020.10:g.(40180000_40246978)_qter - TCF4-CHD6 fusion t(18;20)(q21.1;q11.2) TCF4_000000 fusion transcript TCF4::CHD6 ? PubMed: Kalscheuer 2008 - - De novo - - - - - Irina Giurgea
+/. 6 2i c.72+817(GCT)[(40_?)] pathogenic (dominant), pathogenic (risk), pathogenic r.(?) p.(?) g.53253459(AGC)[(40_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - - - Johan den Dunnen
+/. 1 1i c.72+817(GCT)[(50_?)] pathogenic (risk) r.(?) p.(?) g.53253459(AGC)[(50_?)] - - - TCF4_000000 18/344 cases are homozygous; >76-fold increased risk PubMed: Zarouchlioti 2018 - - Germline yes 344/450 cases FECD - - - Johan den Dunnen
-/. 1 2i c.72+817(GCT)[12] benign r.(?) p.(=) g.53253459(AGC)[12] - - - TCF4_000154 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
-/. 2 3i c.72+817(GCT)[12_15] benign r.(?) p.(=) g.53253459(AGC)[12_35], g.53253459(AGC)[12_15] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 2i c.72+817(GCT)[12_26] benign r.(?) p.(=) g.53253459(AGC)[12_26] - - - TCF4_000152 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
-/. 1 3i c.72+817(GCT)[12_35] benign r.(?) p.(=) g.53253459(AGC)[12_35] - - - TCF4_000153 - PubMed: Mootha 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 2i c.72+817(GCT)[21] benign r.(?) p.(=) g.53253459(AGC)[21] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
+/. 1 3i NM_032221.4:c.(-24+1_-23-1)::c.(145+1_146-1) pathogenic NM_032221.4:r.-178_-24::r.146_*5704 p.? NC_000020.10:g.pter_cen_(40180000_40246978)::g.(53131369_53252510)_qter - CHD6-TCF4 fusion t(18;20)(q21.1;q11.2) TCF4_000107 fusion transcript CHD6 exon 1 spliced to TCF4 exon 4 PubMed: Kalscheuer 2008 - - DUPLICATE record - - - - - Johan den Dunnen
-?/. 1 - c.73-3T>C likely benign r.spl? p.? g.53252586A>G - TCF4:c.73-3T>C - TCF4_000131 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.145+12C>A likely benign r.(=) p.(=) g.53252499G>T - TCF4:c.145+12C>A - TCF4_000130 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 6 3i c.145+42209= benign r.(=), r.(?) p.(=) g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - - - Johan den Dunnen
-/. 1 - c.146-46374T>C benign r.(=) p.(=) g.53177742A>G - TCF4:c.146-46374T>C - TCF4_000129 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.146-120G>T - r.(=) p.(=) g.53131488C>A g.55464257C>A - - TCF4_000081 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 3i_6i c.146-?_369+?del - r.del p.del g.53070685_53131368del g.55403454_55464137del del ex4-6 - TCF4_000068 159 Kb deletion - - - De novo - - - - - Irina Giurgea
+?/. 1 - c.176G>A likely pathogenic r.(?) p.(Trp59*) g.53131338C>T - TCF4:NM_001083962.1:c.176G>A - TCF4_000128 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.207+94C>G - r.(=) p.(=) g.53131213G>C g.55463982G>C - - TCF4_000090 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.207+97T>A benign r.(=) p.(=) g.53131210A>T - TCF4:c.207+97T>A - TCF4_000127 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.207+99A>T benign r.(=) p.(=) g.53131208T>A - TCF4:c.207+99A>T - TCF4_000126 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.208-8A>G likely benign r.(=) p.(=) g.53128354T>C - TCF4:c.208-8A>G - TCF4_000125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.304+203G>T benign r.(=) p.(=) g.53128047C>A - TCF4:c.304+203G>T - TCF4_000124 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.305-165C>T benign r.(=) p.(=) g.53070914G>A - TCF4:c.32C>T (A11V) - TCF4_000123 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 3 5i_8i c.305-?_549+?del - r.del p.del g.53017590_53070749del g.55350359_55403518del del ex6-8 - TCF4_000069 101 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
?/. 1 - c.369+35G>A - r.(=) p.(=) g.53070650C>T g.55403419C>T - - TCF4_000089 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.373_374del pathogenic r.(?) p.(Leu126Profs*4) g.53018230_53018231del - TCF4:NM_001083962.1:c.373_374del (Leu126fs) - TCF4_000149 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 7 c.469C>T pathogenic r.(?) p.(Arg157*) g.53018135G>A g.55350904G>A TCF4:NM_001083962.1:c.469C>T (Arg157*) - TCF4_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Zweier 2008 - - De novo, CLASSIFICATION record - - - - - Irina Giurgea, VKGL-NL_Nijmegen
+/. 1 - c.486dup pathogenic r.(?) p.(Ser163Glnfs*2) g.53018118dup - TCF4:NM_001083962.1:c.486dup (Ser163fs) - TCF4_000148 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.495del likely pathogenic r.(?) p.(Met166Trpfs*68) g.53018109del - TCF4:NM_001243226,2:c.801del (Met268fs) - TCF4_000147 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.500-56A>G - r.(=) p.(=) g.53017695T>C g.55350464T>C - - TCF4_000091 - - - - Germline - - - - - Andreas Laner
+?/+? 1 8 c.505C>T - r.(?) p.(Gln169*) g.53017634G>A g.55350403G>A - - TCF4_000104 - PubMed: Grozeva 2015 - - De novo - - - - - Irina Giurgea
+?/+?, +/. 2 8 c.514_517del - r.(?) p.(Lys172Phefs*61) g.53017622_53017625del g.55350391_55350394del - - TCF4_000047 ClinVar-ClinVar ID (RCV000079461.4) PubMed: Redin 2014 - - De novo - - - - - Irina Giurgea
+?/+?, +/. 2 8 c.520C>T - r.(?) p.(Arg174*) g.53017619G>A g.55350388G>A - - TCF4_000023 ClinVar-ClinVar ID (RCV000224478.1) PubMed: Redin 2014 - - De novo - - - - - Irina Giurgea
-/. 1 - c.549+28833A>G benign r.(=) p.(=) g.52988757T>C - TCF4:c.549+28833A>G - TCF4_000122 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.549+28879del benign r.(=) p.(=) g.52988711del - TCF4:c.549+28879delT - TCF4_000121 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.550-22846A>G VUS r.(=) p.(=) g.52969733T>C - TCF4:c.-18A>G - TCF4_000120 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/+? 1 8i c.550-1G>A - r.spl? p.? g.52946888C>T g.55279657C>T - - TCF4_000105 - PubMed: Grozeva 2015 - - Unknown - - - - - Irina Giurgea
+/. 1 8i c.550-1G>C - r.spl p.(Val184Metfs*15) g.52946888C>G g.55279657C>G - - TCF4_000077 - PubMed: Marangi 2011 - - De novo - - - - - Irina Giurgea
+/. 1 9 c.550-?_655+?del - r.del p.del g.52946782_52946887del g.55279551_55279656del del ex9 - TCF4_000070 - - - - De novo - - - - - Irina Giurgea
+/. 1 8i_15i c.550-?_1350+?del - r.del p.del g.52921728_52946887del g.55254497_55279656del del ex9-15 - TCF4_000071 64 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+/. 1 8i_17i c.550-?_1649+?del - r.del p.del g.52899740_52946887del g.55232509_55279656del del ex9-17 - TCF4_000072 76 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+/. 1 8i_20_ c.550-?_*5704+?del - r.del p.del g.52889562_52946887del g.55222331_55279656del del ex9-20 - TCF4_000073 63 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+/. 1 - c.655+1G>A pathogenic r.spl? p.? g.52946781C>T - TCF4:NM_001083962.1:c.655+1G>A (?) - TCF4_000146 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 9i c.655+1_655+2dup - r.spl? p.(Val184Metfs*15) g.52946780_52946781dup g.55279549_55279550dup IVS9+2insGT - TCF4_000078 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 9i c.656-1G>C - r.spl? p.(?) g.52942984C>G g.55275753C>G IVS9-1G>C - TCF4_000004 not in 360 control chromosomes PubMed: Zweier 2007; PubMed: Peippo 2006; OMIM:var00004 - - De novo - - - - - Johan den Dunnen
+/. 1 9i_18i c.656-?_1879+?del - r.spl p.? g.52896078_52942983del g.55228847_55275752del del ex10-18 - TCF4_000067 - PubMed: Lehalle 2011 - - De novo - - - - - Irina Giurgea
+/. 1 - c.687del pathogenic r.(?) p.(Ser230Profs*4) g.52942952del - TCF4:NM_001083962,1:c.687del (Ser230fs) - TCF4_000145 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.687delC - r.(?) p.(Ser230Profs*4) g.52942952delG g.55275721delG - - TCF4_000013 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 10 c.693dupT - r.(?) p.(Gly232Trpfs*25) g.52942946dupA g.55275715dupA 692-694insT - TCF4_000006 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.696_699dup pathogenic r.(?) p.(Asn234Aspfs*24) g.52942940_52942943dup - TCF4:NM_001243226.2:c.1002_1005dup (Asn336fs) - TCF4_000144 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.788delT - r.(?) p.(Leu263*) g.52942851delA g.55275620delA - - TCF4_000014 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
-?/. 1 - c.790-9T>C likely benign r.(=) p.(=) g.52937203A>G - TCF4:c.790-9T>C - TCF4_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 11 c.791delG - r.(?) p.(Ser264Thrfs*43) g.52937193delC g.55269962delC - - TCF4_000049 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+?/+? 1 12 c.873C>A - r.(?) p.(Tyr291*) g.52937111G>T g.55269880G>T - - TCF4_000100 - - - - De novo - - - - - Irina Giurgea
+/. 1 11 c.908delC - r.(?) p.(Thr303Lysfs*4) g.52937076delG g.55269845delG - - TCF4_000063 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 - c.922+6T>G pathogenic r.(=) p.(=) g.52937056A>C - TCF4:NM_001083962:c.922+6T>G (?) - TCF4_000143 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.923-43G>A benign r.(=) p.(=) g.52928807C>T g.55261576C>T TCF4:c.923-43G>A - TCF4_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - rs35918540 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Andreas Laner
+/. 1 11i c.923-2A>G - r.spl p.? g.52928766T>C g.55261535T>C 923-2A>G - TCF4_000074 - PubMed: De Pontual 2008 - - De novo - - - - - Irina Giurgea
+/. 1 12 c.928dupA - r.(?) p.(Arg310Lysfs*29) g.52928759dupT g.55261528dupT - - TCF4_000024 - - - - De novo - - - - - Irina Giurgea
+/. 1 12 c.940delG - r.(?) p.(Ala314Glnfs*77) g.52928747delC g.55261516delC 937-940delG - TCF4_000018 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-?/. 1 - c.944C>T likely benign r.(?) p.(Ala315Val) g.52928743G>A - TCF4:NM_00108396.2:c.944C>T (Ala315Val) - TCF4_000142 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.949delA - r.(?) p.(Ser317Alafs*74) g.52928738delT g.55261507delT - - TCF4_000050 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 12 c.965_969del - r.(?) p.(Asp322Alafs*15 ) g.52928718_52928722delAGCAT g.55261487_55261491del 965-969delATGCT - TCF4_000007 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - - - Johan den Dunnen
+/. 1 12 c.988_989del - r.(?) p.(Ser330Aspfs*8) g.52928698_52928699delGA g.55261467_55261468del - - TCF4_000051 - - - - De novo - - - - - Irina Giurgea
./., +/., +?/+? 4 12 c.990G>A pathogenic, ACMG: 5 r.(=), r.spl? p.(=), p.? g.52928697C>T g.55261466C>T TCF4:NM_001083962.1:c.990G>A - TCF4_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Tan 2015 - - De novo, CLASSIFICATION record yes - - - - Irina Giurgea, VKGL-NL_Nijmegen, Bernt Popp
+/. 1 - c.990+1G>A pathogenic r.spl? p.? g.52928696C>T - TCF4:NM_001083962.1:c.990+1G>A (?) - TCF4_000141 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.990+38_990+40del - r.(=) p.(=) g.52928657_52928659del g.55261426_55261428del - - TCF4_000087 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.990+42A>T - r.(=) p.(=) g.52928655T>A g.55261424T>A - - TCF4_000086 - - - - Germline - - - - - Andreas Laner
-?/., -/. 2 - c.991-18del likely benign, benign r.(=) p.(=) g.52927276del - TCF4:NM_001083962.1:c.991-18del (?), TCF4:c.991-18delT - TCF4_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+?/+? 1 13i c.991-2A>G - r.spl? p.? g.52927260T>C g.55260029T>C - - TCF4_000106 ClinVar-ClinVar ID (RCV000147731.1) PubMed: Tan 2015 - - Unknown - - - - - Irina Giurgea
+/. 1 13 c.1018delA - r.(?) p.(Asn340fsAlafs*51) g.52927231delT g.55260000delT - - TCF4_000010 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 - c.1053del pathogenic r.(?) p.(Pro352Leufs*39) g.52927196del - TCF4:NM_001083962.1:c.1053del (Pro352fs) - TCF4_000140 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13i c.1069+2T>G - r.spl p.? g.52927178A>C g.55259947A>C - - TCF4_000099 - - - - De novo yes - - - - Wenjuan Qiu
+/. 1 14 c.1073G>T - r.(?) p.(Gly358Val) g.52924619C>A g.55257388C>A - - TCF4_000043 site d'epissage GT PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 14 c.1077delA - r.(?) p.(Ala360Leufs*31) g.52924615delT g.55257384delT - - TCF4_000019 - - - - De novo - - - - - Irina Giurgea
+/. 1 14 c.1113delG - r.(?) p.(Ser372Leufs*19) g.52924579delC g.55257348delC 1113delG (Ser372Leu) - TCF4_000052 - - - - De novo - - - - - Irina Giurgea
+/. 1 - c.1134del pathogenic r.(?) p.(Leu379Tyrfs*12) g.52924558del - TCF4:NM_001243226.2(TCF4):c.1440del (Leu481fs) - TCF4_000139 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 14 c.1142delC - r.(?) p.(Ser381Phefs*10) g.52924550delG g.55257319delG - - TCF4_000011 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 14i c.1146+1G>A - r.spl p.? g.52924545C>T g.55257314C>T - - TCF4_000075 - PubMed: De Pontual 2008 - - De novo - - - - - Irina Giurgea
+/. 1 14i c.1146+3A>G - r.spl? p.(Gly358Lysfs*4) g.52924543T>C g.55257312T>C IVS14+3A>G - TCF4_000066 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-/. 1 - c.1147-76G>A benign r.(=) p.(=) g.52922007C>T - TCF4:c.1147-76G>A - TCF4_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 15 c.1151delG - r.(?) p.(Ser384Thrfs*7) g.52921927delC g.55254696delC - - TCF4_000053 - PubMed: Takano 2010 - - De novo - - - - - Irina Giurgea
+/., +?/+? 4 15 c.1153C>T pathogenic r.(?) p.(Arg385*) g.52921925G>A g.55254694G>A 1153C>T, TCF4:NM_001083962.1:c.1153C>T (Arg385*) - TCF4_000003 ClinVar-ClinVar ID (RCV000007797.4), not in 360 control chromosomes, 1 more item PubMed: Hamdan 2013 , PubMed: Zweier 2007; PubMed: Peippo 2006 - - Germline, De novo, CLASSIFICATION record - - - - - Andreas Laner, Irina Giurgea, Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 15 c.1238delG - r.(?) p.(Gly413Valfs*49) g.52921840delC g.55254609delC - - TCF4_000044 - - - - De novo - - - - - Irina Giurgea
+/. 1 15 c.1241delG - r.(?) p.(Gly414Valfs*48) g.52921837delC g.55254606delC - - TCF4_000045 - - - - De novo - - - - - Irina Giurgea
+/. 2 15 c.1328C>G - r.(?) p.(Ser443*) g.52921750G>C g.55254519G>C - - TCF4_000054 - - - - De novo - - - - - Irina Giurgea
+/. 1 15 c.1343C>G - r.(?) p.(Ser448*) g.52921735G>C g.55254504G>C - - TCF4_000055 - PubMed: Marangi 2011 - - De novo - - - - - Irina Giurgea
-/. 1 - c.1350+102A>T benign r.(=) p.(=) g.52921626T>A - TCF4:c.1350+102A>T - TCF4_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 16 c.1414delG - r.(?) p.(Val472Phefs*16) g.52901851delC g.55234620delC 1413-1414delG - TCF4_000064 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-?/. 1 - c.1419G>C likely benign r.(=) p.(=) g.52901846C>G - TCF4:c.1419G>C (P473=) - TCF4_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 16 c.1438C>T pathogenic r.(?) p.(Gln480*) g.52901827G>A g.55234596G>A TCF4:NM_001083962.1:c.1438C>T (Gln480*) - TCF4_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Nijmegen, Irina Giurgea
+/. 1 16 c.1450del - r.(?) p.(Ser484Profs*4) g.52901815del g.55234584del - - TCF4_000056 - PubMed: Marangi 2011 - - De novo - - - - - Irina Giurgea
+/. 1 16 c.1471delC - r.(?) p.(Gln491Argfs*44) g.52901794delG g.55234563delG 1468-1471delc - TCF4_000037 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 16 c.1472dup - r.(?) p.(Asp492Glyfs*21) g.52901793dup g.55234562dup 1472_1473insA - TCF4_000034 - PubMed: De Pontual 2008 - - De novo - - - - - Irina Giurgea
+/. 1 16 c.1483A>T - r.(?) p.(Arg495*) g.52901782T>A g.55234551T>A - - TCF4_000025 - - - - De novo - - - - - Irina Giurgea
+/. 1 16i c.1486+3_1486+6del - r.spl? p.? g.52901773_52901776del4 g.55234542_55234545del 1486+3del4 - TCF4_000065 111 Kb deletion exons 10-18 PubMed: Lehalle 2011 - - De novo - - - - - Irina Giurgea
Legend   « First ‹ Prev     1 2     Next › Last »