Full data view for gene FLCN

Information The variants shown are described using the NM_144997.5 transcript reference sequence.

817 entries on 9 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     
+/+ _1_1i c.-6544_-228+454delins-3779_-3655inv r.(?) p.? Unknown - pathogenic g.17139772_17146542delins17143653_17143777inv - hg18 17080497_17087267del;17084378_17084502invins - FLCN_000180 - PubMed: Benhammou 2011 - - Germline - - - 0 - DNA MLPA, arrayCGH, SEQ - - BHDS 21412933-PatE7/E8 PubMed: Benhammou 2011 family, 2 affecteds - - United States - - 0 - - 2 Johan den Dunnen
+/+ _1_1i c.-5575_-228+341delinsCCCCCATGG r.(?) p.? Parent #1 - pathogenic g.17139885_17145573delinsCCATGGGGG g.17236571_17242259delinsCCATGGGGG hg18 g.17080610_17086298del - FLCN_000179 - PubMed: Benhammou 2011 - - Germline yes - - 0 - DNA MLPA, arrayCGH, SEQ - - BHDS 21412933-PatD5/D6 PubMed: Benhammou 2011 3-generation family, affectedgrandmother, mother and daughter F - United States - - 0 - - 3 Johan den Dunnen
+/+ _1_1i c.-4174_-227-1566del r.(?) p.? Unknown - pathogenic g.17137782_17144173del g.17234468_17240859del hg18 g.17078506_17084897del - FLCN_000138 - PubMed: Benhammou 2011 - - Germline - - - 0 - DNA arrayCGH, MLPA, SEQ - - BHDS 21412933-PatC4 PubMed: Benhammou 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/+ _1_1i c.(?_-504)_(-228+1_-227-1)del r.(?) p.? Unknown - pathogenic g.(17136216_17140225)_(17140502del_?)del - - - FLCN_000181 - PubMed: Benhammou 2011 - - Germline - - - 0 - DNA MLPA - - BHDS 21412933-PatF9 PubMed: Benhammou 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/+ _1_1i c.(?_-504)_(-228+1_-227-1)del r.spl? p.? Unknown - pathogenic g.(17136216_17140225)_(17140502_?)del - exon 1 deletion - FLCN_000181 - PubMed: Babaei Jandaghi et al. 2013 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Babaei Jandaghi et al. 2013 Family of 10: 5 males, 5 females - - Iran - - 0 - - 10 Derek Lim
-/- 1 c.-487G>C r.(?) p.(?) Unknown - benign g.17140485C>G g.17237171C>G - - FLCN_000089 - - - rs1736209 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
-/- 1 c.-302G>A r.(?) p.(?) Unknown - benign g.17140300C>T g.17236986C>T c-302C>T - FLCN_000090 - - - rs41345949 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
-/- 1 c.-299C>T r.(?) p.(?) Unknown - benign g.17140297G>A g.17236983G>A -299G>A - FLCN_000091 - - - rs1708629 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 1i_12i c.(-228+1_-227-1)_(1432+1_1433-1)dup r.(?) p.? Unknown - pathogenic g.(17118405_17118498)_(17136216_17140225)dup - c.-227-?_1432+?dup - FLCN_000140 large intragenic duplication - - - Germline - - - 0 - DNA ? - - BHDS - - - - - - - - 0 yes - 1 Derek Lim
-/- 1i c.-228+1368G>T r.(?) p.(?) Unknown - benign g.17138858C>A g.17235544C>A -228+1368C>A - FLCN_000093 - - - rs41388547 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 1i_5i c.-227-853_397-295del r.(?) p.? Unknown - pathogenic g.17127752_17137068del g.17224438_17233754del - - FLCN_000136 large intragenic deletion PubMed: Benhammou 2011 - - Germline - - - 0 - DNA ? - - BHDS 21412933-PatA PubMed: Benhammou 2011 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.-114+5G>C r.spl? p.? Unknown - VUS g.17136097C>G g.17232783C>G FLCN(NM_144997.5):c.-114+5G>C - FLCN_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-93C>T r.(?) p.(=) Parent #1 - benign g.17135176G>A g.17231862G>A - - FLCN_000160 - - - rs115413827 Germline - MAF 0.02 - 0 - DNA SEQ - - BHDS - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 3 c.-90A>G r.(?) p.(?) Unknown - benign g.17135173T>C g.17231859T>C -90T>C - FLCN_000094 - - - rs8069957 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
-/- 3i c.-25+100C>G r.(?) p.(?) Unknown - benign g.17135008G>C g.17231694G>C - - FLCN_000095 - - - rs1736212 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.-12C>T r.(?) p.(=) Unknown - likely benign g.17131463G>A g.17228149G>A - - FLCN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.(?-504)_(-228+1_-227-1)del r.(?) p.? Unknown - pathogenic g.(17136216_17140225)_(17140502_?)del - exon 1 deletion - FLCN_000181 - PubMed: Liu et al 2019 - - Germline - - - 0 - DNA MLPA - - BHDS - PubMed: Liu et al 2019 - F - - - - 0 - - 1 Kenki Matsumoto
-/- 3i c.1-64A>G r.(?) p.(?) Unknown - benign g.17131515T>C g.17228201T>C rs8069957 - FLCN_000069 observed with another pathogenic mutation Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Lim 2010 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.17131451T>C g.17228137T>C - - FLCN_000001 affects splicesite and start codon. - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Lim 2010 - - - - - - 0 - - 1 Derek Lim
./. - c.1G>A - - Parent #1 - likely pathogenic g.17131451C>T g.17228137C>T - - FLCN_000168 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/+ 4 c.3del r.(?) p.(Met1?) Unknown - pathogenic g.17131449del g.17228135del 458delG - FLCN_000002 mutation in start codon. Predicted no translation. Previously reported as c.458delG. - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Bessis 2006 PubMed: Kluger 2009 - - - - - - 0 - - 2 Johan den Dunnen
+/+ 4 c.3delG r.? p.? Unknown - pathogenic g.17131449delC - - - FLCN_000289 - PubMed: [Kluger et al. 2009] - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Kluger et al. 2009 Part of family F - - - - 0 - - 1 Kenki Matsumoto
+?/+ 4 c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.17131449C>T g.17228135C>T - - FLCN_000119 - - - - Germline - - - 0 - DNA ? - - BHDS - - Unpublished. For further informaton please contact submitter (see reference). - - - - - 0 - - 1 Lieke Gijezen
+?/+ 4 c.3G>A r.? p.? Unknown - likely pathogenic g.17131449C>T g.17228135C>T - - FLCN_000119 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Houweling et al. 2011 - - - - - - 0 - - 1 Derek Lim
+/. 4 c.17_21del r.(?) p.(Ala6Valfs*29) Unknown - pathogenic g.17131431_17131435del g.17228117_17228121del - - FLCN_000207 - PubMed: McDermott et al 2018 - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: McDermott et al 2018 - F - - - - 0 - - 2 Derek Lim
+?/. 4 c.17_21del r.(?) p.(Ala6Valfs*29) Unknown - pathogenic g.17131431_17131435del g.17228117_17228121del - - FLCN_000207 - PubMed: McDermott 2018 - - Germline yes - - 0 - DNA SEQ - - pneumothorax, primary spontaneous - PubMed: McDermott 2018 family, 2 affectd sisters F - Ireland - - 0 - - 2 Kenki Matsumoto
+?/+? 4 c.20T>C r.(?) p.(Leu7Pro) Maternal (inferred) - likely pathogenic g.17131432A>G g.17228118A>G - - FLCN_000149 - - - - Germline - - - 0 - DNA ? - - BHDS - - thyroid cancer F - Japan - - 0 - - 1 Mitsuko Furuya
+?/+? 4 c.31T>C r.(?) p.(Cys11Arg) Unknown - likely pathogenic g.17131421A>G g.17228107A>G - - FLCN_000208 - PubMed: Lee et al. 2018 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Lee et al. 2018 - F - Korea, South (Republic) - - 0 - - 1 Derek Lim
+?/. - c.49dup r.(?) p.(Arg17ProfsTer20) Unknown - likely pathogenic g.17131407dup g.17228093dup FLCN(NM_144997.5):c.49dupC (p.(Arg17ProfsTer20)) - FLCN_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.50G>C r.(?) p.(Arg17Pro) Unknown - pathogenic g.17131402C>G g.17228088C>G - - FLCN_000153 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Cesar 2016 - - no - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16) Unknown - pathogenic g.17131398_17131399del g.17228084_17228085del - - FLCN_000209 - PubMed: Skolnik et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Skolnik et al. 2016 Part of a larger family of 36 patients: 18 male and 18 female - - - - - 0 - - 36 Derek Lim
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16) Unknown - pathogenic g.17131394_17131395del g.17228084_17228085del - - FLCN_000209 - PubMed: Benusiglio et al. 2014 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Benusiglio et al. 2014 - F - - - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16) Unknown - pathogenic g.17131394_17131395del g.17228084_17228085del - - FLCN_000209 - PubMed: Yukawa et al. 2016 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Yukawa et al. 2016 - F - Japan - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16) Unknown - pathogenic g.17131394_17131395del g.17228084_17228085del - - FLCN_000209 - PubMed: Liu et al. 2019 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Liu et al. 2019 - M - China - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.57_58del r.(?) p.(Phe20Leufs*16) Unknown - pathogenic g.17131398_17131399del g.17228084_17228085del - - FLCN_000209 - PubMed: Liu et al. 2019 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Liu et al. 2019 - F - China - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35) Unknown - pathogenic g.17131394del g.17228080del - - FLCN_000003 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Schmidt 2005 PubMed: Toro 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35) Unknown - pathogenic g.17131393del - c.59delT - FLCN_000287 - PubMed: Pierce et al 2011 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Pierce et al 2011 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.59del r.(?) p.(Phe20Serfs*35) Unknown - pathogenic g.17131393del g.17228080del - - FLCN_000003 - PubMed: Michels et al. 2012 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Michels et al. 2012 - M - Germany - - 0 - - 1 Kenki Matsumoto
+?/? 4 c.65C>A r.(?) p.(Thr22Lys) Unknown - VUS g.17131387G>T g.17228073G>T - - FLCN_000210 - PubMed: Furuya et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Furuya et al. 2016 - - - - - - 0 - - 1 Derek Lim
+/+ - c.67G>T r.(?) p.(Glu23*) Unknown - pathogenic g.17131385C>A g.17228071C>A - - FLCN_000211 - PubMed: Benusiglio et al. 2014 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Benusiglio et al. 2014 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.97dup r.(?) p.(Asp33Glyfs*4) Unknown - pathogenic g.17131358dup g.17228044dup - - FLCN_000135 Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - Germline - - - 0 - DNA ? - - BHDS - - - - - - - - 0 - - 1 Derek Lim
+/+ - c.119del r.(?) p.(Gly40Alafs*15) Unknown - pathogenic g.17131334del g.17228020del - - FLCN_000212 - PubMed: Hoshika et al. 2016 - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Hoshika et al. 2016 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.145G>T r.(?) p.(Glu49*) Unknown - pathogenic g.17131307C>A g.17227993C>A - - FLCN_000213 - PubMed: Liu et al. 2017b - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Liu et al. 2017b - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.147del r.(?) p.(Gly50Valfs*5) Unknown - pathogenic g.17131306del g.17227992del 602delA - FLCN_000004 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.155del r.(?) p.(Gln53Argfs*2) Unknown - pathogenic g.17131297del - - - FLCN_000316 - PubMed: Johannesma et al. 2014 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Johannesma et al. 2014 - M - Netherlands - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.157C>T r.(?) p.(Gln53*) Unknown - pathogenic g.17131295G>A g.17227981G>A - - FLCN_000215 - PubMed: Liu et al. 2017 - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Liu et al. 2017 - - - - - - 0 - - 1 Derek Lim
+/. 4 c.158del r.(?) p.(Gln53Argfs*2) Unknown - pathogenic g.17131294del g.17227980del 158delA - FLCN_000152 - - - - Germline - - - 0 - DNA SEQ - - MINAS, pneumothorax, primary spontaneous - - - F - Denmark - - 0 - - 1 James Whitworth
+/+ 4 c.158del r.(?) p.(Gln53Argfs*2) Unknown - pathogenic g.17131294del g.17227980del - - FLCN_000152 - PubMed: Rossing et al. 2016 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Rossing et al. 2016 - - - - - - 0 - - 1 Kenki Matsumoto
+/+ 4 c.158del r.(?) p.(Gln53Argfs*2) Unknown - pathogenic g.17131294del g.17227980del c.158delA - FLCN_000152 - PubMed: Rossing et al. 2016 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Rossing et al. 2016 - - - - - - 0 - - 1 Derek Lim
?/. - c.176G>C r.(?) p.(Arg59Pro) Unknown - VUS g.17131276C>G g.17227962C>G - - FLCN_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.185del r.(?) p.(Ser62Thrfs*68) Unknown - pathogenic g.17131267del g.17227953del - - FLCN_000216 - PubMed: Iwabuchi et al. 2018 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Iwabuchi et al. 2018 - - - - - - 0 - - 1 Derek Lim
?/. - c.188C>A r.(?) p.(Pro63His) Unknown - VUS g.17131264G>T g.17227950G>T - - FLCN_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.199dup r.(?) p.(Ala67Glyfs*33) Unknown - pathogenic g.17131257dup g.17227943dup - - FLCN_000217 - PubMed: Kato et al. 2015 - - Germline - - - 0 - DNA ? - - RCC - PubMed: Kato et al. 2015 - - - - - - 0 - - 1 Derek Lim
./. - c.205G>A r.(?) p.(Val69Ile) Parent #1 - VUS g.17131247C>T g.17227933C>T - - FLCN_000167 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/+ 4 c.214del r.(?) p.(Ser72Alafs*58) Unknown - pathogenic g.17131238del g.17227924del - - FLCN_000218 - PubMed: Liu et al. 2017 - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Liu et al. 2017 - - - - - - 0 - - 1 Derek Lim
-/- 1i c.229+994A>G r.(?) p.(?) Unknown - benign g.17130229T>C g.17226915T>C -228+994C>T - FLCN_000092 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs41337846 Germline - - - 0 - DNA ? - - ? - PubMed: Cho 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.233del r.(?) p.(Lys78Serfs*52) Unknown - pathogenic g.17131223del g.17227909del - - FLCN_000219 - PubMed: Rossing et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Rossing et al. 2016 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.235_238del r.(?) p.(Ser79Thrfs*50) Unknown - pathogenic g.17131215_17131218del g.17227901_17227904del 690-3delTCGG - FLCN_000005 - - - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Painter 2005 - - - - - - 0 - - 13 Johan den Dunnen
+/+ 4 c.240del r.(?) p.(Asp80Glufs*50) Unknown - pathogenic g.17131212del g.17227898del - - FLCN_000006 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Lim 2010 - - - - - - 0 - - 1 Derek Lim
+/+ 4 c.241del r.(?) p.(Met81Cysfs*49) Unknown - pathogenic g.17131211del g.17227897del - - FLCN_000220 - PubMed: Spring et al. 2013. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Spring et al. 2013. 2016 - - - - - - 0 - - 1 Derek Lim
-?/. - c.246C>T r.(?) p.(Cys82=) Unknown - likely benign g.17131206G>A g.17227892G>A FLCN(NM_144997.5):c.246C>T (p.C82=) - FLCN_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.246C>T r.(?) p.(Cys82=) Unknown - likely benign g.17131206G>A - FLCN(NM_144997.5):c.246C>T (p.C82=) - FLCN_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.249+1G>A r.spl? p.? Unknown - pathogenic g.17131202C>T - - - FLCN_000294 - PubMed: Ardolino et al. 2020 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Ardolino et al. 2020 - M - Australia - - 0 - - 1 Kenki Matsumoto
+/+ 4i c.249+1G>A r.spl? p.? Unknown - pathogenic g.17131202C>T - - - FLCN_000294 - PubMed: Liu et al. 2019 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Liu et al. 2019 Family of two: 2 females - - China - - 0 - - 2 Kenki Matsumoto
+/+ 4i c.249+1G>T r.spl? p.? Unknown - pathogenic g.17131202C>A g.17227888C>A - - FLCN_000221 - PubMed: Liu et al. 2017 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Liu et al. 2017 - - - - - - 0 - - 1 Derek Lim
+/+ 4i c.250-2A>G r.spl p.? Unknown - pathogenic g.17129638T>C g.17226324T>C IVS4-2A>G - FLCN_000049 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro 2008 - - - - - - 0 - - 10 Johan den Dunnen
+/+ 4i c.250-2A>G r.spl? p.? Unknown - pathogenic g.17129638T>C - - - FLCN_000049 - PubMed: Mikesell et al 2014 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Mikesell et al 2014 - - - - - - 0 - - 1 Derek Lim
+/+ 4i c.250-2A>G r.spl? p.? Unknown - pathogenic g.17129638T>C - - - FLCN_000049 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 4i c.250-2A>G r.spl? p.? Unknown - pathogenic g.17129638T>C - - - FLCN_000049 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 4i c.250-2A>G r.spl? p.? Unknown - pathogenic g.17129638T>C - - - FLCN_000049 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 4i c.250-1G>A r.spl p.? Unknown - pathogenic g.17129637C>T g.17226323C>T IVS4-1G>A - FLCN_000058 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Schmidt 2005 - - - - - - 0 - - 3 Johan den Dunnen
+/+ 5 c.250delG r.(?) p.(Gly84Alafs*46) Unknown - pathogenic g.17129636delC - - - FLCN_000296 - PubMed: Liu et al. 2019 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Liu et al. 2019 - F - - - - 0 - - 1 Kenki Matsumoto
+/+ 4i-5i c.(249+1_250-1)_(396+1_397-1)del r.(=) p.(=) Unknown - pathogenic g.(17127458_17129489)_(17129637_17131202)del - .p.Gly84_Glu132del - FLCN_000227 - PubMed: Schneider et al. 2018 - - Germline - - - 0 - DNA ? - - RCC - PubMed: Schneider et al. 2018 - - - - - - 0 - - 1 Derek Lim
+/+ 4i-14 c.(249+1_250-1)_(*1_?)del r.(?) p.(?) Unknown - pathogenic g.(?_17116968)_(17129636_17131202)del - c.250−?_1740+?del - FLCN_000222 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 Family of 3 - - Netherlands - - 0 - - 3 Derek Lim
+/+ 5 c.252del r.(?) p.(Cys85Alafs*45) Unknown - pathogenic g.17129634del g.17226320del 707delC - FLCN_000059 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Schmidt 2005 - - - - - - 0 - - 2 Johan den Dunnen
+/+ 5 c.252_253insG r.(?) p.(Cys85Valfs*15) Unknown - pathogenic g.17129633_17129634insC g.17226319_17226320insC - - FLCN_000223 - PubMed: Liu et al. 2019 - - Germline - - - 0 - DNA ? - - pneumothorax, primary spontaneous - PubMed: Liu et al. 2019 - - - - - - 0 - - 1 Derek Lim
+/+ 5 c.256_269del r.(?) p.(Ser87Alafs*8) Unknown - pathogenic g.17129622_17129635del g.17226308_17226321del - - FLCN_000224 - PubMed: Lichte et al. 2012. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Lichte et al. 2012. 2011 - - - - - - 0 - - 1 Derek Lim
+/+ 5 c.260C>G r.(?) p.(Ser87*) Unknown - pathogenic g.17129626G>C g.17226312G>C - - FLCN_000225 - PubMed: Furuya et al. 2016. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Furuya et al. 2016. 2011 - - - - - - 0 - - 1 Derek Lim
./. - c.268G>T r.(?) p.(Ala90Ser) Parent #1 - VUS g.17129618C>A g.17226304C>A - - FLCN_000166 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.268G>T r.(?) p.(Ala90Ser) Unknown - likely benign g.17129618C>A g.17226304C>A FLCN(NM_144997.5):c.268G>T (p.A90S) - FLCN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.268G>T r.(?) p.(Ala90Ser) Unknown - likely benign g.17129618C>A g.17226304C>A FLCN(NM_144997.5):c.268G>T (p.A90S) - FLCN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.296del r.(?) p.(Asp99Valfs*31) Unknown - pathogenic g.17129590del g.17226276del 751delA - FLCN_000007 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Schmidt 2005 - - - - - - 0 - - 2 Johan den Dunnen
+/+ 5 c.296del r.(?) p.(Asp99Valfs*31) Unknown - pathogenic g.17129590del - - - FLCN_000007 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.318C>G r.(?) p.(Tyr106*) Unknown - pathogenic g.17129568G>C g.17226254G>C - - FLCN_000226 - PubMed: Benusiglio et al. 2014 - - Germline - - - 0 - DNA ? - - BHDS, RCC - PubMed: Benusiglio et al. 2014 - - - - - - 0 - - 1 Derek Lim
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG 774-5delGTinsCAC - FLCN_000008 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - - - - 0 - - 15 Johan den Dunnen
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Parent #1 - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Germline - - - 0 - DNA SEQ blood - BHDS - - - - - Netherlands - - 0 - - 1 Michel van Geel
+/. 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Unknown - - - 0 - DNA SEQ blood - BHDS - - - - - Netherlands - - 0 - - 1 Michel van Geel
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Toro 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro 2008 - - - - - - 0 - - 4 Derek Lim
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Toro et al. 2008 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Toro et al. 2008 - - - United States - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 1 Derek Lim
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 2 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Houweling et al. 2011 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Houweling et al. 2011 - - - Netherlands - - 0 - - 9 Kenki Matsumoto
+/+ 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) Unknown - pathogenic g.17129566_17129567delinsGTG - - - FLCN_000008 - PubMed: Johannesma et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Johannesma et al. 2016 - - - Netherlands - - 0 - - 1 Kenki Matsumoto
+?/+? 5 c.323G>T r.(?) p.(Ser108Ile) Unknown - likely pathogenic g.17129563C>A g.17226249C>A - - FLCN_000113 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Kluger 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.323G>T r.(?) p.(Ser108Ile) Unknown - pathogenic g.17129563C>A - - - FLCN_000113 - PubMed: Benusiglio et al. 2014 - - Germline - - - 0 - DNA SEQ - - BHDS - PubMed: Benusiglio et al. 2014 - M - France - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.328C>T r.(?) p.(Gln110*) Unknown - pathogenic g.17129558G>A g.17226244G>A - - FLCN_000132 - - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - 1 Johan den Dunnen
+?/+? 5 c.332_349del r.(?) p.(His111_Gln116del) Parent #1 - likely pathogenic g.17129542_17129559del g.17226228_17226245del - - FLCN_000141 predicting protein change;?HPSHPQ? replaced by a single amino acid ?L? - - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Nagashima Int J Urol. 2011 Renal tumor/lung cysts. 3-generation family with 1 affected and 2 non-penetrant carriers. F - Japan Japanese - 0 - - 1 Mitsuko Furuya
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del) Unknown - pathogenic g.17129537_17129554del - - - FLCN_000141 - PubMed: Furuya et al. 2012 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Furuya et al. 2012 - F - Japan - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del) Unknown - pathogenic g.17129537_17129554del - - - FLCN_000141 - PubMed: Iwabuchi et al. 2018 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Iwabuchi et al. 2018 - F - Japan - - 0 - - 1 Kenki Matsumoto
+/+ 5 c.332_349del r.(?) p.(His111_Gln116del) Unknown - pathogenic g.17129537_17129554del - - - FLCN_000141 - PubMed: Kato et al. 2016 - - Germline - - - 0 - DNA ? - - BHDS - PubMed: Kato et al. 2016 - M - Japan - - 0 - - 1 Kenki Matsumoto
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