Full data view for gene TCF4

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

227 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_10i c.(?_-612)_789+?del - - r.0? p.0? Parent #1 g.? - del ex1-10 - TCF4_000008 0.5 Mb deletion PubMed: Brockschmidt 2007 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Brockschmidt 2007 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.? - - r.? p.? Parent #1 g.? - t(14;18)(q13.1;q21.2) - TCF4_000000 translocation chromosomes 14;20 PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - F - - - - 0 - - 1 Irina Giurgea
./. _1_20_ c.-24759932_*4532602del - - r.0? p.0? Unknown g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/. - c.-47853G>C - benign r.(?) p.(=) Unknown g.53303101C>G - TCF4(NM_001243226.2):c.28G>C (p.A10P) - TCF4_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-47721A>T - likely benign r.(?) p.(=) Unknown g.53302969T>A - TCF4(NM_001243226.1):c.160A>T (p.(Asn54Tyr)) - TCF4_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-43559del - benign r.(?) p.(=) Unknown g.53298807del - TCF4(NM_001243226.2):c.196-188delA - TCF4_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-43295C>T - VUS r.(?) p.(=) Unknown g.53298543G>A - TCF4(NM_001243226.2):c.272C>T (p.T91I) - TCF4_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-387del - benign r.(?) p.(=) Unknown g.53255646del - TCF4(NM_001083962.1):c.-387delT - TCF4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - del RP11-397A16 - TCF4_000000 1.8 Mb deletion PubMed: Amiel 2007 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Amiel 2007 - F - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - g.50552638_517423685 - TCF4_000000 1.2 Mb deletion PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 6.2 Mb deletion PubMed: Andrieux 2008 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Andrieux 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - del 18q21.1-q22.3 - TCF4_000000 >13 Mb deletion Gustavsson - - De novo - - - 0 - DNA microscope - - PTHS - Gustavsson - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0 p.0 Parent #1 g.(38100000_38400000)_(50200000_57600000)del - - 18q21.1-q22.1del TCF4_000000 >10 Mb deletion PubMed: Giurgea 2008 - - De novo - - - 0 - DNA microscope - - PTHS - PubMed: Giurgea 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0 p.0 Parent #1 g.(51000000_51994667)_(58706460_59000000)del - hg18? g.50248665_56248665 - TCF4_000009 6.6 Mb deletion PubMed: Giurgea 2008 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Giurgea 2008 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.(47000000_47318499)_(59320932_60000000)del - hg18? g.45572497_57471912 18q21.1-q22.1del TCF4_000015 11.89 Mb deletion; somatic 0.80 metaphases lymphocytes and fibroblasts PubMed: Giurgea 2008 - - Somatic - - - 0 - DNA arrayCGH - - PTHS - PubMed: Giurgea 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0 p.0 Parent #1 g.(52000000_52895125)_(62258013_63000000)del - hg18? g.51046123-60408993del 18q21.2-q22.1del TCF4_000016 9.36 Mb deletion PubMed: Giurgea 2008 - - De novo - - - 0 - DNA arrayCGH - - PTHS - PubMed: Giurgea 2008 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 large deletion PubMed: De Pontual 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: De Pontual 2008 - - - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - del(18)(q21.2q21.33) - TCF4_000000 large deletion PubMed: Kato 2010 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Kato 2010 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 del 11 Mb PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 del 8.3 Mb PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - large del - TCF4_000000 large deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 del 2.4 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - M - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 del 2.9 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. _1_20_ c.(?_-1)_(*1_?)del - - r.0? p.0? Parent #1 g.? - - - TCF4_000000 del 6.1 Mb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. 3i c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1) - pathogenic r.? p.? Parent #1 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 - - - 0 - DNA FISH - - ? - PubMed: Kalscheuer 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (dominant) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F14 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M) F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F32 PubMed: Mootha 2014 4-generation family, 4 affecteds (2F, 2M), 2 unaffected carriers F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F39 PubMed: Mootha 2014 3-generation family, 2 affecteds (F, M), 1 unaffected carrier F;M no United States - - 0 - - 2 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM173/191 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M), 1 unaffected carrier; affected brother/sister F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) Parent #1 g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F33 PubMed: Mootha 2014 4-generation family, 3 affecteds (2F, M) F no United States - - 0 - - 3 Johan den Dunnen
+/. 2i c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic r.(?) p.(?) Both (homozygous) g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 - PubMed: Mootha 2014 - - Germline yes - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM16/187 PubMed: Mootha 2014 mother/daughter F no United States - - 0 - - 2 Johan den Dunnen
+/. 1i c.72+804_73-747[ins(81_?)] GCT[>50] pathogenic (risk) r.(?) p.(?) Parent #1 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 - 0 - DNA PCRrp - - FECD 29526280-Fams PubMed: Zarouchlioti 2018 344/450 FECD individuals F;M no - European - 0 - - 344 Johan den Dunnen
-/. 2i c.72+817_73-802GCT[12] - benign r.(?) p.(=) Parent #2 g.53253385_53253459AGC[12] - - - TCF4_000154 - PubMed: Mootha 2014 - - Germline no - - 0 - DNA PCRrp - - FECD 24255041-F39 PubMed: Mootha 2014 3-generation family, 2 affecteds (F, M), 1 unaffected carrier F;M no United States - - 0 - - 2 Johan den Dunnen
-/. 2i c.72+817_73-802GCT[12_26] - benign r.(?) p.(=) Parent #2 g.53253385_53253459AGC[12_26] - - - TCF4_000152 - PubMed: Mootha 2014 - - Germline no - - 0 - DNA PCRrp - - FECD 24255041-F14 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M) F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c.72+817_73-802GCT[12_35] - benign r.(?) p.(=) Parent #2 g.53253385_53253459AGC[12_35] - - - TCF4_000153 - PubMed: Mootha 2014 - - Germline - - - 0 - DNA PCRrp - - FECD 24255041-F32 PubMed: Mootha 2014 4-generation family, 4 affecteds (2F, 2M), 2 unaffected carriers F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c.72+817_73-802GCT[12_35] - benign r.(?) p.(=) Both (homozygous) g.53253385_53253459AGC[12_35] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - 0 - DNA PCRrp - - FECD 24255041-F36 PubMed: Mootha 2014 4-generation family, 2 affecteds (2F) F no United States - - 0 - - 2 Johan den Dunnen
-/. 2i c.72+817_73-802GCT[21] - benign r.(?) p.(=) Parent #2 g.53253385_53253459AGC[21] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline no - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM173/191 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M), 1 unaffected carrier; affected brother/sister F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c72+817_73-802GCT[12_35] - benign r.(?) p.(=) Parent #2 g.53253385_53253459AGC[12_35] - - - TCF4_000000 - PubMed: Mootha 2014 - - Germline - - - 0 - DNA PCRrp - - FECD 24255041-F33 PubMed: Mootha 2014 4-generation family, 3 affecteds (2F, M) F no United States - - 0 - - 3 Johan den Dunnen
+/. 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.? Parent #1 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 - - - 0 - DNA FISH - - ? - PubMed: Kalscheuer 2008 - F - - - - 0 - - 1 Irina Giurgea
-/. - c.72+37A>G - benign r.(=) p.(=) Unknown g.53254239T>C - TCF4(NM_001083962.1):c.72+37A>G - TCF4_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73-3T>C - likely benign r.spl? p.? Unknown g.53252586A>G - TCF4(NM_001083962.1):c.73-3T>C - TCF4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.145+12C>A - likely benign r.(=) p.(=) Unknown g.53252499G>T - TCF4(NM_001083962.1):c.145+12C>A - TCF4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.145+42209= - benign r.(=) p.(=) Parent #1 g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F14 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M) F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c.145+42209= - benign r.(?) p.(=) Parent #1 g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F32 PubMed: Mootha 2014 4-generation family, 4 affecteds (2F, 2M), 2 unaffected carriers F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c.145+42209= - benign r.(=) p.(=) Parent #1 g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F39 PubMed: Mootha 2014 3-generation family, 2 affecteds (F, M), 1 unaffected carrier F;M no United States - - 0 - - 2 Johan den Dunnen
-/. 3i c.145+42209= - benign r.(=) p.(=) Parent #1 g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM173/191 PubMed: Mootha 2014 3-generation family, 4 affecteds (3F, M), 1 unaffected carrier; affected brother/sister F;M no United States - - 0 - - 4 Johan den Dunnen
-/. 3i c.145+42209= - benign r.(?) p.(=) Parent #1 g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F33 PubMed: Mootha 2014 4-generation family, 3 affecteds (2F, M) F no United States - - 0 - - 3 Johan den Dunnen
-/. 3i c.145+42209= - benign r.(=) p.(=) Both (homozygous) g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - DNA PCRrp - - FECD 24255041-F10-VVM16/187 PubMed: Mootha 2014 mother/daughter F no United States - - 0 - - 2 Johan den Dunnen
-/. - c.146-46374T>C - benign r.(=) p.(=) Unknown g.53177742A>G - TCF4(NM_001083962.1):c.146-46374T>C - TCF4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.146-120G>T - - r.(=) p.(=) Parent #1 g.53131488C>A g.55464257C>A - - TCF4_000081 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.146-8G>A - likely benign r.(=) p.(=) Unknown g.53131376C>T - TCF4(NM_001083962.1):c.146-8G>A (p.(=)) - TCF4_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_6i c.146-?_369+?del - - r.del p.del Parent #1 g.53070685_53131368del g.55403454_55464137del del ex4-6 - TCF4_000068 159 Kb deletion - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
?/. - c.176G>A - VUS r.(?) p.(Trp59*) Unknown g.53131338C>T - TCF4(NM_001083962.1):c.176G>A (p.(Trp59Ter)) - TCF4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.207+94C>G - - r.(=) p.(=) Parent #1 g.53131213G>C g.55463982G>C - - TCF4_000090 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.207+97T>A - benign r.(=) p.(=) Unknown g.53131210A>T - TCF4(NM_001083962.1):c.207+97T>A - TCF4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.207+99A>T - benign r.(=) p.(=) Unknown g.53131208T>A - TCF4(NM_001083962.1):c.207+99A>T - TCF4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.208-122C>A - benign r.(=) p.(=) Unknown g.53128468G>T - TCF4(NM_001083962.1):c.208-122C>A - TCF4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-8A>G - likely benign r.(=) p.(=) Unknown g.53128354T>C - TCF4(NM_001083962.1):c.208-8A>G - TCF4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.304+203G>T - benign r.(=) p.(=) Unknown g.53128047C>A - TCF4(NM_001083962.1):c.304+203G>T - TCF4_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.305-165C>T - benign r.(=) p.(=) Unknown g.53070914G>A - TCF4(NM_001243232.1):c.32C>T (p.A11V) - TCF4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i_8i c.305-?_549+?del - - r.del p.del Parent #1 g.53017590_53070749del g.55350359_55403518del del ex6-8 - TCF4_000069 - - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. 5i_8i c.305-?_549+?del - - r.del p.del Parent #1 g.53017590_53070749del g.55350359_55403518del del ex6-8 - TCF4_000069 - - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+/. 5i_8i c.305-?_549+?del - - r.del p.del Parent #1 g.53017590_53070749del g.55350359_55403518del del ex6-8 - TCF4_000069 101 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
?/. - c.369+35G>A - - r.(=) p.(=) Parent #1 g.53070650C>T g.55403419C>T - - TCF4_000089 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.415del - pathogenic r.(?) p.(Leu139Phefs*95) Unknown g.53018191del - TCF4(NM_001083962.1):c.415delC (p.L139Ffs*95) - TCF4_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.469C>T - - r.(?) p.(Arg157*) Parent #1 g.53018135G>A g.55350904G>A - - TCF4_000022 - PubMed: Zweier 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Zweier 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. - c.469C>T - pathogenic r.(?) p.(Arg157*) Unknown g.53018135G>A - TCF4(NM_001083962.1):c.469C>T (p.Arg157*) - TCF4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.499+1G>A - pathogenic r.spl? p.? Unknown g.53018104C>T - TCF4(NM_001083962.1):c.499+1G>A - TCF4_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500-56A>G - - r.(=) p.(=) Parent #1 g.53017695T>C g.55350464T>C - - TCF4_000091 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/+? 8 c.505C>T - - r.(?) p.(Gln169*) Unknown g.53017634G>A g.55350403G>A - - TCF4_000104 - PubMed: Grozeva 2015 - - De novo - - - 0 - DNA SEQ - - ID - PubMed: Grozeva 2015 - - - - - - 0 - - 1 Irina Giurgea
+/. 8 c.514_517del - - r.(?) p.(Lys172Phefs*61) Parent #1 g.53017622_53017625del g.55350391_55350394del - - TCF4_000047 - - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+?/+? 8 c.514_517del - - r.(?) p.(Lys172Phefs*61) Parent #1 g.53017622_53017625del g.55350391_55350394del - - TCF4_000047 ClinVar-ClinVar ID (RCV000079461.4) PubMed: Redin 2014 - - De novo - - - 0 - DNA SEQ - - ID - PubMed: Redin 2014 - - - - - - 0 - - 1 Irina Giurgea
+/. 8 c.520C>T - - r.(?) p.(Arg174*) Parent #1 g.53017619G>A g.55350388G>A - - TCF4_000023 - - - - De novo - - - 0 - DNA SEQ - - PTHS - - - F - - - - 0 - - 1 Irina Giurgea
+?/+? 8 c.520C>T - - r.(?) p.(Arg174*) Parent #1 g.53017619G>A g.55350388G>A - - TCF4_000023 ClinVar-ClinVar ID (RCV000224478.1) PubMed: Redin 2014 - - De novo - - - 0 - DNA SEQ - - ID - PubMed: Redin 2014 - - - - - - 0 - - 1 Irina Giurgea
+/. - c.520C>T - pathogenic r.(?) p.(Arg174*) Unknown g.53017619G>A - TCF4(NM_001083962.1):c.520C>T (p.Arg174*) - TCF4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.549+28833A>G - benign r.(=) p.(=) Unknown g.52988757T>C - TCF4(NM_001083962.1):c.549+28833A>G - TCF4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.549+28879del - benign r.(=) p.(=) Unknown g.52988717del - TCF4(NM_001083962.1):c.549+28879delT - TCF4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.550-22846A>G - VUS r.(=) p.(=) Unknown g.52969733T>C - TCF4(NM_001243236.1):c.-18A>G - TCF4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 8i c.550-1G>A - - r.spl? p.? Unknown g.52946888C>T g.55279657C>T - - TCF4_000105 - PubMed: Grozeva 2015 - - Unknown - - - 0 - DNA SEQ - - ID - PubMed: Grozeva 2015 - - - - - - 0 - - 1 Irina Giurgea
+/. 8i c.550-1G>C - - r.spl p.(Val184Metfs*15) Parent #1 g.52946888C>G g.55279657C>G - - TCF4_000077 - PubMed: Marangi 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Marangi 2011 - F - - - - 0 - - 1 Irina Giurgea
+/. 9 c.550-?_655+?del - - r.del p.del Parent #1 g.52946782_52946887del g.55279551_55279656del del ex9 - TCF4_000070 - - - - De novo - - - 0 - DNA SEQ - - PTHS - - - M - - - - 0 - - 1 Irina Giurgea
+/. 8i_15i c.550-?_1350+?del - - r.del p.del Parent #1 g.52921728_52946887del g.55254497_55279656del del ex9-15 - TCF4_000071 64 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. 8i_17i c.550-?_1649+?del - - r.del p.del Parent #1 g.52899740_52946887del g.55232509_55279656del del ex9-17 - TCF4_000072 76 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - F - - - - 0 - - 1 Irina Giurgea
+/. 8i_20_ c.550-?_*5704+?del - - r.del p.del Parent #1 g.52889562_52946887del g.55222331_55279656del del ex9-20 - TCF4_000073 63 Kb deletion PubMed: Rosenfeld 2009 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Rosenfeld 2009 - M - - - - 0 - - 1 Irina Giurgea
+?/. - c.654A>G - likely pathogenic r.(?) p.(=) Unknown g.52946783T>C - TCF4(NM_001083962.1):c.654A>G (p.(=)) - TCF4_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.655+1G>A - pathogenic r.spl? p.? Unknown g.52946781C>T - TCF4(NM_001083962.1):c.655+1G>A (p.?) - TCF4_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9i c.655+1_655+2dup - - r.spl? p.(Val184Metfs*15) Parent #1 g.52946780_52946781dup g.55279549_55279550dup IVS9+2insGT - TCF4_000078 - PubMed: Zweier 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Zweier 2008 - F - - - - 0 - - 1 Irina Giurgea
-/. - c.656-182T>A - benign r.(=) p.(=) Unknown g.52943165A>T - TCF4(NM_001083962.1):c.656-182T>A - TCF4_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.656-1G>C - - r.spl? p.(?) Parent #1 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 - - - 0 - DNA SEQ - - PTHS - PubMed: Zweier 2007; PubMed: Peippo 2006; OMIM:var00004 - F - - - - 0 - - 1 Johan den Dunnen
+/. 9i_18i c.656-?_1879+?del - - r.spl p.? Parent #1 g.52896078_52942983del g.55228847_55275752del del ex10-18 - TCF4_000067 - PubMed: Lehalle 2011 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Lehalle 2011 - F - - - - 0 - - 1 Irina Giurgea
+/. 10 c.687delC - - r.(?) p.(Ser230Profs*4) Parent #1 g.52942952delG g.55275721delG - - TCF4_000013 - PubMed: Giurgea 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Giurgea 2008 - F - - - - 0 - - 1 Irina Giurgea
+/. 10 c.693dupT - - r.(?) p.(Gly232Trpfs*25) Parent #1 g.52942946dupA g.55275715dupA 692-694insT - TCF4_000006 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Zweier 2007; PubMed: Peippo 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.788delT - - r.(?) p.(Leu263*) Parent #1 g.52942851delA g.55275620delA - - TCF4_000014 - PubMed: Giurgea 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Giurgea 2008 - F - - - - 0 - - 1 Irina Giurgea
-?/. - c.790-9T>C - likely benign r.(=) p.(=) Unknown g.52937203A>G - TCF4(NM_001083962.1):c.790-9T>C - TCF4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.791delG - - r.(?) p.(Ser264Thrfs*43) Parent #1 g.52937193delC g.55269962delC - - TCF4_000049 - PubMed: Zweier 2008 - - De novo - - - 0 - DNA SEQ - - PTHS - PubMed: Zweier 2008 - M - - - - 0 - - 1 Irina Giurgea
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