Unique variants in gene TCF4

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

170 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.? - r.? p.? - pathogenic 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? - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
-/. 1 - c.-47853G>C - r.(?) p.(=) - benign g.53303101C>G g.55635870= TCF4(NM_001243226.2):c.28G>C (p.A10P) - TCF4_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.-47597G>A - r.(?) p.(=) - benign g.53302845C>T g.55635614C>T TCF4(NM_001243226.3):c.195+89G>A - TCF4_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-43559del - r.(?) p.(=) - benign g.53298807del g.55631576del TCF4(NM_001243226.2):c.196-188delA - TCF4_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-43295C>T - r.(?) p.(=) - VUS g.53298543G>A g.55631312G>A TCF4(NM_001243226.3):c.272C>T (p.T91I) - TCF4_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 _1_10i c.(?_-612)_789+?del - r.0? p.0? - pathogenic g.? - del ex1-10 - TCF4_000008 0.5 Mb deletion PubMed: Brockschmidt 2007 - - De novo - - - - - Johan den Dunnen
-/., -?/. 2 - c.-387del - r.(?) p.(=) - benign, likely benign g.53255646del g.55588415del TCF4(NM_001083962.1):c.-387delT - TCF4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 21 _1_20_ c.(?_-1)_(*1_?)del - r.0?, r.0 p.0?, p.0 - pathogenic 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) - r.? p.? - pathogenic g.(53131369_53252510)_qterdelins[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+804_73-747[ins(51_?)] GCT[>40] r.(?) p.(?) - pathogenic (dominant), pathogenic (!), pathogenic g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - - - Johan den Dunnen
+/. 1 1i c.72+804_73-747[ins(81_?)] GCT[>50] r.(?) p.(?) - pathogenic (!) g.53253330_5325347[ins(81_?)] - - - 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_73-802GCT[12] - r.(?) p.(=) - benign g.53253385_53253459AGC[12] - - - TCF4_000154 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
-/. 1 2i c.72+817_73-802GCT[12_26] - r.(?) p.(=) - benign g.53253385_53253459AGC[12_26] - - - TCF4_000152 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
-/. 2 3i c.72+817_73-802GCT[12_35] - r.(?) p.(=) - benign g.53253385_53253459AGC[12_35] - - - TCF4_000153, TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 2i c.72+817_73-802GCT[21] - r.(?) p.(=) - benign g.53253385_53253459AGC[21] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline no - - - - Johan den Dunnen
-/. 1 3i c72+817_73-802GCT[12_35] - r.(?) p.(=) - benign g.53253385_53253459AGC[12_35] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 3i NM_032221.4:c.(-24+1_-23-1)::c.(145+1_146-1) - NM_032221.4:r.-178_-24::r.146_*5704 p.? - pathogenic g.[NC_000020.10:(40180000_40246978)_qter]delinsg.(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.72+37A>G - r.(=) p.(=) - benign g.53254239T>C g.55587008T>C TCF4(NM_001083962.1):c.72+37A>G - TCF4_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.73-3T>C - r.spl? p.? - likely benign g.53252586A>G g.55585355A>G TCF4(NM_001083962.1):c.73-3T>C - TCF4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.145+12C>A - r.(=) p.(=) - likely benign g.53252499G>T g.55585268G>T TCF4(NM_001083962.1):c.145+12C>A - TCF4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 6 3i c.145+42209= - r.(=), r.(?) p.(=) - benign g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - - - Johan den Dunnen
-/. 1 - c.146-46406C>G - r.(=) p.(=) - benign g.53177774G>C g.55510543G>C TCF4(NM_001243228.2):c.146-46406C>G - TCF4_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.146-46374T>C - r.(=) p.(=) - benign g.53177742A>G g.55510511A>G TCF4(NM_001083962.1):c.146-46374T>C - TCF4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.146-46372T>A - r.(=) p.(=) - benign g.53177740A>T g.55510509A>T TCF4(NM_001243228.2):c.146-46372T>A - TCF4_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.146-120G>T - r.(=) p.(=) - VUS g.53131488C>A g.55464257C>A - - TCF4_000081 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.146-8G>A - r.(=) p.(=) - likely benign g.53131376C>T g.55464145C>T TCF4(NM_001083962.1):c.146-8G>A (p.(=)) - TCF4_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3i_6i c.146-?_369+?del - r.del p.del - pathogenic g.53070685_53131368del g.55403454_55464137del del ex4-6 - TCF4_000068 1 more item - - - De novo - - - - - Irina Giurgea
?/. 1 - c.176G>A - r.(?) p.(Trp59Ter) - VUS g.53131338C>T g.55464107C>T TCF4(NM_001083962.1):c.176G>A (p.(Trp59Ter)) - TCF4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.207+94C>G - r.(=) p.(=) - benign g.53131213G>C g.55463982G>C - - TCF4_000090 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.207+97T>A - r.(=) p.(=) - benign g.53131210A>T g.55463979A>T TCF4(NM_001083962.1):c.207+97T>A, TCF4(NM_001243228.2):c.207+97T>A - TCF4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.207+99A>T - r.(=) p.(=) - benign g.53131208T>A g.55463977T>A TCF4(NM_001083962.1):c.207+99A>T - TCF4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.208-122C>A - r.(=) p.(=) - benign g.53128468G>T g.55461237G>T TCF4(NM_001083962.1):c.208-122C>A - TCF4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.208-8A>G - r.(=) p.(=) - likely benign g.53128354T>C g.55461123T>C TCF4(NM_001083962.1):c.208-8A>G - TCF4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.224C>G - r.(?) p.(Thr75Ser) - VUS g.53128330G>C g.55461099G>C TCF4(NM_001243228.2):c.224C>G (p.T75S) - TCF4_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.304+203G>T - r.(=) p.(=) - benign g.53128047C>A g.55460816C>A TCF4(NM_001083962.1):c.304+203G>T - TCF4_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.305-165C>T - r.(=) p.(=) - benign g.53070914G>A g.55403683G>A TCF4(NM_001243232.1):c.32C>T (p.A11V) - TCF4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 3 5i_8i c.305-?_549+?del - r.del p.del - pathogenic g.53017590_53070749del g.55350359_55403518del del ex6-8 - TCF4_000069 2 more items PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
?/. 1 - c.369+35G>A - r.(=) p.(=) - VUS g.53070650C>T g.55403419C>T - - TCF4_000089 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.415del - r.(?) p.(Leu139PhefsTer95) - pathogenic g.53018191del g.55350960del TCF4(NM_001083962.1):c.415delC (p.L139Ffs*95) - TCF4_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 7 c.469C>T - r.(?) p.(Arg157*), p.(Arg157Ter) - pathogenic g.53018135G>A g.55350904G>A - - TCF4_000022 VKGL data sharing initiative Nederland PubMed: Zweier 2008 - - De novo, CLASSIFICATION record - - - - - Irina Giurgea, VKGL-NL_Nijmegen
+/. 1 - c.499+1G>A - r.spl? p.? - pathogenic g.53018104C>T g.55350873C>T TCF4(NM_001083962.1):c.499+1G>A - TCF4_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.500-56A>G - r.(=) p.(=) - VUS g.53017695T>C g.55350464T>C - - TCF4_000091 - - - - Germline - - - - - Andreas Laner
+?/+? 1 8 c.505C>T - r.(?) p.(Gln169*) - likely pathogenic g.53017634G>A g.55350403G>A - - TCF4_000104 - PubMed: Grozeva 2015 - - De novo - - - - - Irina Giurgea
+?/+?, +/. 2 8 c.514_517del - r.(?) p.(Lys172Phefs*61) - likely pathogenic, pathogenic g.53017626_53017629del g.55350395_55350398del - - TCF4_000047 ClinVar-ClinVar ID (RCV000079461.4) PubMed: Redin 2014 - - De novo - - - - - Irina Giurgea
+/., +?/+? 3 8 c.520C>T - r.(?) p.(Arg174Ter), p.(Arg174*) - pathogenic, likely pathogenic g.53017619G>A g.55350388G>A - - TCF4_000023 VKGL data sharing initiative Nederland, ClinVar-ClinVar ID (RCV000224478.1) PubMed: Redin 2014 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Nijmegen, Irina Giurgea
-/. 1 - c.549+28833A>G - r.(=) p.(=) - benign g.52988757T>C g.55321526T>C TCF4(NM_001083962.1):c.549+28833A>G - TCF4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.549+28879del - r.(=) p.(=) - benign g.52988717del g.55321486del TCF4(NM_001083962.1):c.549+28879delT - TCF4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.550-22846A>G - r.(=) p.(=) - VUS g.52969733T>C g.55302502T>C TCF4(NM_001243236.1):c.-18A>G - TCF4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/+? 1 8i c.550-1G>A - r.spl? p.? - likely pathogenic 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) - pathogenic 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 - pathogenic g.52946782_52946887del g.55279551_55279656del del ex9 - TCF4_000070 1 more item - - - De novo - - - - - Irina Giurgea
+/. 1 8i_15i c.550-?_1350+?del - r.del p.del - pathogenic g.52921728_52946887del g.55254497_55279656del del ex9-15 - TCF4_000071 1 more item PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+/. 1 8i_17i c.550-?_1649+?del - r.del p.del - pathogenic g.52899740_52946887del g.55232509_55279656del del ex9-17 - TCF4_000072 1 more item PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+/. 1 8i_20_ c.550-?_*5704+?del - r.del p.del - pathogenic g.52889562_52946887del g.55222331_55279656del del ex9-20 - TCF4_000073 1 more item PubMed: Rosenfeld 2009 - - De novo - - - - - Irina Giurgea
+?/. 1 - c.654A>G - r.(?) p.(Gln218=) - likely pathogenic g.52946783T>C g.55279552T>C TCF4(NM_001083962.1):c.654A>G (p.(=)) - TCF4_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.655+1G>A - r.spl? p.? - pathogenic g.52946781C>T g.55279550C>T - - TCF4_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 9i c.655+1_655+2dup - r.spl? p.(Val184Metfs*15) - pathogenic g.52946780_52946781dup g.55279549_55279550dup IVS9+2insGT - TCF4_000078 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-/. 1 - c.656-182T>A - r.(=) p.(=) - benign g.52943165A>T g.55275934A>T TCF4(NM_001083962.1):c.656-182T>A - TCF4_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 9i c.656-1G>C - r.spl? p.(?) - pathogenic 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.? - pathogenic g.52896078_52942983del g.55228847_55275752del del ex10-18 - TCF4_000067 1 more item PubMed: Lehalle 2011 - - De novo - - - - - Irina Giurgea
+/. 1 - c.680G>T - r.(?) p.(Trp227Leu) - pathogenic g.52942959C>A g.55275728C>A - - TCF4_000171 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs796053425 Germline - 2/2795 individuals - - - Mohammed Faruq
+/. 1 10 c.687del - r.(?) p.(Ser230Profs*4) - pathogenic g.52942953del g.55275722del - - TCF4_000013 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 10 c.693dup - r.(?) p.(Gly232Trpfs*25) - pathogenic g.52942946dup g.55275715dup 692-694insT - TCF4_000006 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.696_699dup - r.(?) p.(Asn234AspfsTer24) - pathogenic g.52942941_52942944dup g.55275710_55275713dup - - TCF4_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.759C>G - r.(?) p.(Ser253Arg) - pathogenic (dominant) g.52942880G>C g.55275649G>C - - TCF4_000182 - PubMed: Srivastava 2018 - - De novo - - - - - Johan den Dunnen
+/. 1 10 c.788del - r.(?) p.(Leu263*) - pathogenic g.52942853del g.55275622del - - TCF4_000014 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
-?/. 1 - c.790-9T>C - r.(=) p.(=) - likely benign g.52937203A>G g.55269972A>G TCF4(NM_001083962.1):c.790-9T>C - TCF4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 11 c.791del - r.(?) p.(Ser264Thrfs*43) - pathogenic g.52937193del g.55269962del - - TCF4_000049 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+?/+? 1 12 c.873C>A - r.(?) p.(Tyr291*) - likely pathogenic g.52937111G>T g.55269880G>T - - TCF4_000100 - - - - De novo - - - - - Irina Giurgea
+/. 1 11 c.908del - r.(?) p.(Thr303Lysfs*4) - pathogenic g.52937076del g.55269845del - - TCF4_000063 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 - c.922+5G>A - r.790_922del p.Cys296_Ala308delinsSer - pathogenic (dominant) g.52937057C>T g.55269826C>T - - TCF4_000178 Splicing change confirmed by RT-PCR - skipping of exon 11 - - - De novo yes - - - - Peter Sparber
+/. 1 - c.922+6T>G - r.(=) p.(=) - pathogenic g.52937056A>C g.55269825A>C - - TCF4_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.923-43G>A - r.(=) p.(=) - benign g.52928807C>T g.55261576C>T TCF4(NM_001083962.1):c.923-43G>A - TCF4_000088 VKGL data sharing initiative Nederland - - rs35918540 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Andreas Laner
+/. 1 11i c.923-2A>G - r.spl p.? - pathogenic g.52928766T>C g.55261535T>C 923-2A>G - TCF4_000074 - PubMed: De Pontual 2008 - - De novo - - - - - Irina Giurgea
+/. 1 12 c.928dup - r.(?) p.(Arg310Lysfs*29) - pathogenic g.52928759dup g.55261528dup - - TCF4_000024 - - - - De novo - - - - - Irina Giurgea
+/. 1 12 c.940del - r.(?) p.(Ala314Glnfs*77) - pathogenic g.52928750del g.55261519del 937-940delG - TCF4_000018 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-?/. 2 - c.944C>T - r.(?) p.(Ala315Val) - likely benign g.52928743G>A g.55261512G>A - - TCF4_000142 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs147445499 Germline, CLASSIFICATION record - 2/2775 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen
+/. 1 12 c.949del - r.(?) p.(Ser317Alafs*74) - pathogenic g.52928738del g.55261507del - - TCF4_000050 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 12 c.965_969del - r.(?) p.(Asp322Alafs*15 ) - pathogenic g.52928718_52928722del 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) - pathogenic g.52928698_52928699del g.55261467_55261468del - - TCF4_000051 - - - - De novo - - - - - Irina Giurgea
./., +/., +?/+? 4 12 c.990G>A - r.(=), r.(?), r.spl? p.(=), p.(Ser330=) ACMG likely pathogenic, pathogenic g.52928697C>T g.55261466C>T - - TCF4_000098 VKGL data sharing initiative Nederland, ClinVar-ClinVar ID (RCV000147730.1) PubMed: Tan 2015 - - De novo, CLASSIFICATION record yes - - - - Irina Giurgea, VKGL-NL_Nijmegen, Bernt Popp
+/. 1 - c.990+1G>A - r.spl? p.? - pathogenic g.52928696C>T g.55261465C>T - - TCF4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.990+38_990+40del - r.(=) p.(=) - VUS g.52928658_52928660del g.55261427_55261429del - - TCF4_000087 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.990+42A>T - r.(=) p.(=) - VUS g.52928655T>A g.55261424T>A - - TCF4_000086 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.991-18del - r.(=) p.(=) - benign g.52927285del g.55260054del TCF4(NM_001083962.1):c.991-18delT - TCF4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 13i c.991-2A>G - r.spl? p.? - likely pathogenic g.52927260T>C g.55260029T>C - - TCF4_000106 ClinVar-ClinVar ID (RCV000147731.1) PubMed: Tan 2015 - - Unknown - - - - - Irina Giurgea
+/. 1 13 c.1018del - r.(?) p.(Ser340AlafsTer51) - pathogenic g.52927231del g.55260000del - - TCF4_000010 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 - c.1028C>G - r.(?) p.(Ser343Ter) - pathogenic g.52927221G>C g.55259990G>C - - TCF4_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13i c.1069+2T>G - r.spl p.? - pathogenic g.52927178A>C g.55259947A>C - - TCF4_000099 - - - - De novo yes - - - - Wenjuan Qiu
?/. 1 - c.1070-2A>G - r.spl p.? ACMG VUS g.52924624T>C g.55257393T>C - - TCF4_000179 1 more item - - - Germline no - - - - Andreas Laner
+/. 1 14 c.1073G>T - r.(?) p.(Gly358Val) - pathogenic g.52924619C>A g.55257388C>A - - TCF4_000043 site d'epissage GT PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
+/. 1 14 c.1077del - r.(?) p.(Ala360Leufs*31) - pathogenic g.52924615del g.55257384del - - TCF4_000019 - - - - De novo - - - - - Irina Giurgea
+/. 1 14 c.1113del - r.(?) p.(Ser372Leufs*19) - pathogenic g.52924579del g.55257348del 1113delG (Ser372Leu) - TCF4_000052 - - - - De novo - - - - - Irina Giurgea
+/. 1 - c.1134del - r.(?) p.(Leu379TyrfsTer12) - pathogenic g.52924560del g.55257329del - - TCF4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 14 c.1142del - r.(?) p.(Ser381Phefs*10) - pathogenic g.52924550del g.55257319del - - TCF4_000011 - PubMed: Giurgea 2008 - - De novo - - - - - Irina Giurgea
+/. 1 14i c.1146+1G>A - r.spl p.? - pathogenic 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) - pathogenic g.52924543T>C g.55257312T>C IVS14+3A>G - TCF4_000066 - PubMed: Zweier 2008 - - De novo - - - - - Irina Giurgea
-/. 1 - c.1147-76G>A - r.(=) p.(=) - benign g.52922007C>T g.55254776C>T TCF4(NM_001083962.1):c.1147-76G>A - TCF4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 15 c.1151del - r.(?) p.(Ser384Thrfs*7) - pathogenic g.52921927del g.55254696del - - TCF4_000053 - PubMed: Takano 2010 - - De novo - - - - - Irina Giurgea
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