Unique variants in the FLCN gene

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

314 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 _1_1i c.-6544_-228+454delins-3779_-3655inv r.(?) p.? - pathogenic g.17139772_17146542delins17143653_17143777inv - hg18 17080497_17087267del;17084378_17084502invins - FLCN_000180 - PubMed: Benhammou 2011 - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_1i c.-5575_-228+341delinsCCCCCATGG r.(?) p.? - pathogenic g.17139885_17145573delinsCCATGGGGG g.17236571_17242259delinsCCATGGGGG hg18 g.17080610_17086298del - FLCN_000179 - PubMed: Benhammou 2011 - - Germline yes - - - - Johan den Dunnen
+/+ 1 _1_1i c.-4174_-227-1566del r.(?) p.? - pathogenic g.17137782_17144173del g.17234468_17240859del hg18 g.17078506_17084897del - FLCN_000138 - PubMed: Benhammou 2011 - - Germline - - - - - Johan den Dunnen
+/+ 2 _1_1i c.(?_-504)_(-228+1_-227-1)del r.(?), r.spl? p.? - pathogenic g.(17136216_17140225)_(17140502del_?)del, g.(17136216_17140225)_(17140502_?)del - exon 1 deletion - FLCN_000181 - PubMed: Babaei Jandaghi et al. 2013, PubMed: Benhammou 2011 - - Germline - - - - - Johan den Dunnen, Derek Lim
-/- 1 1 c.-487G>C r.(?) p.(?) - benign g.17140485C>G g.17237171C>G - - FLCN_000089 - - - rs1736209 Germline - - - - - Johan den Dunnen
-/- 1 1 c.-302G>A r.(?) p.(?) - benign g.17140300C>T g.17236986C>T c-302C>T - FLCN_000090 - - - rs41345949 Germline - - - - - Johan den Dunnen
-/- 1 1 c.-299C>T r.(?) p.(?) - benign g.17140297G>A g.17236983G>A -299G>A - FLCN_000091 - - - rs1708629 Germline - - - - - Johan den Dunnen
+/+ 1 1i_12i c.(-228+1_-227-1)_(1432+1_1433-1)dup r.(?) p.? - pathogenic g.(17118405_17118498)_(17136216_17140225)dup - c.-227-?_1432+?dup - FLCN_000140 large intragenic duplication - - - Germline - - - - - Derek Lim
-/- 1 1i c.-228+1368G>T r.(?) p.(?) - benign g.17138858C>A g.17235544C>A -228+1368C>A - FLCN_000093 - - - rs41388547 Germline - - - - - Johan den Dunnen
+/+ 1 1i_5i c.-227-853_397-295del r.(?) p.? - pathogenic g.17127752_17137068del g.17224438_17233754del - - FLCN_000136 large intragenic deletion PubMed: Benhammou 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.-114+5G>C r.spl? p.? - VUS g.17136097C>G g.17232783C>G FLCN(NM_144997.5):c.-114+5G>C - FLCN_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 1 c.-93C>T r.(?) p.(=) - benign g.17135176G>A g.17231862G>A - - FLCN_000160 - - - rs115413827 Germline - MAF 0.02 - - - Andreas Laner
-/- 1 3 c.-90A>G r.(?) p.(?) - benign g.17135173T>C g.17231859T>C -90T>C - FLCN_000094 - - - rs8069957 Germline - - - - - Johan den Dunnen
-/- 1 3i c.-25+100C>G r.(?) p.(?) - benign g.17135008G>C g.17231694G>C - - FLCN_000095 - - - rs1736212 Germline - - - - - Johan den Dunnen
-?/. 1 - c.-12C>T r.(?) p.(=) - likely benign g.17131463G>A g.17228149G>A - - FLCN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 1 c.(?-504)_(-228+1_-227-1)del r.(?) p.? - pathogenic g.(17136216_17140225)_(17140502_?)del - exon 1 deletion - FLCN_000181 - PubMed: Liu et al 2019 - - Germline - - - - - Kenki Matsumoto
-/- 1 3i c.1-64A>G r.(?) p.(?) - benign g.17131515T>C g.17228201T>C rs8069957 - FLCN_000069 1 more item - - - Germline - - - - - Derek Lim
+/+ 1 4 c.1A>G r.(?) p.(Met1?) - pathogenic g.17131451T>C g.17228137T>C - - FLCN_000001 affects splicesite and start codon. - - - Germline - - - - - Derek Lim
./. 1 - c.1G>A - - - likely pathogenic g.17131451C>T g.17228137C>T - - FLCN_000168 1 more item Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+ 1 4 c.3del r.(?) p.(Met1?) - pathogenic g.17131449del g.17228135del 458delG - FLCN_000002 mutation in start codon. Predicted no translation. Previously reported as c.458delG. - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.3delG r.? p.? - pathogenic g.17131449delC - - - FLCN_000289 - PubMed: [Kluger et al. 2009] - - Germline - - - - - Kenki Matsumoto
+?/+ 2 4 c.3G>A r.(?), r.? p.(Met1?), p.? - likely pathogenic g.17131449C>T g.17228135C>T - - FLCN_000119 - PubMed: Houweling et al. 2011 - - Germline - - - - - Lieke Gijezen, Kenki Matsumoto
+/., +?/. 2 4 c.17_21del r.(?) p.(Ala6Valfs*29) - pathogenic g.17131431_17131435del g.17228117_17228121del - - FLCN_000207 - PubMed: McDermott 2018, PubMed: McDermott et al 2018 - - Germline yes - - - - Derek Lim, Kenki Matsumoto
+?/+? 1 4 c.20T>C r.(?) p.(Leu7Pro) - likely pathogenic g.17131432A>G g.17228118A>G - - FLCN_000149 - - - - Germline - - - - - Mitsuko Furuya
+?/+? 1 4 c.31T>C r.(?) p.(Cys11Arg) - likely pathogenic g.17131421A>G g.17228107A>G - - FLCN_000208 - PubMed: Lee et al. 2018 - - Germline - - - - - Derek Lim
+?/. 1 - c.49dup r.(?) p.(Arg17ProfsTer20) - likely pathogenic g.17131407dup g.17228093dup FLCN(NM_144997.5):c.49dupC (p.(Arg17ProfsTer20)) - FLCN_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 4 c.50G>C r.(?) p.(Arg17Pro) - pathogenic g.17131402C>G g.17228088C>G - - FLCN_000153 - - - - Germline - - - - - Johan den Dunnen
+/+ 5 4 c.57_58del r.(?) p.(Phe20Leufs*16) - pathogenic g.17131394_17131395del, g.17131398_17131399del g.17228084_17228085del - - FLCN_000209 - PubMed: Benusiglio et al. 2014, PubMed: Liu et al. 2019, PubMed: Skolnik et al. 2016, 1 more item - - Germline - - - - - Derek Lim, Kenki Matsumoto
+/+ 3 4 c.59del r.(?) p.(Phe20Serfs*35) - pathogenic g.17131393del, g.17131394del g.17228080del c.59delT - FLCN_000003, FLCN_000287 - PubMed: Michels et al. 2012, PubMed: Pierce et al 2011 - - Germline - - - - - Johan den Dunnen, Derek Lim, Kenki Matsumoto
+?/? 1 4 c.65C>A r.(?) p.(Thr22Lys) - VUS g.17131387G>T g.17228073G>T - - FLCN_000210 - PubMed: Furuya et al. 2016 - - Germline - - - - - Derek Lim
+/+ 1 - c.67G>T r.(?) p.(Glu23*) - pathogenic g.17131385C>A g.17228071C>A - - FLCN_000211 - PubMed: Benusiglio et al. 2014 - - Germline - - - - - Derek Lim
+/+ 1 4 c.97dup r.(?) p.(Asp33Glyfs*4) - 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 - - - - - Derek Lim
+/+ 1 - c.119del r.(?) p.(Gly40Alafs*15) - pathogenic g.17131334del g.17228020del - - FLCN_000212 - PubMed: Hoshika et al. 2016 - - Germline - - - - - Derek Lim
+/+ 1 4 c.145G>T r.(?) p.(Glu49*) - pathogenic g.17131307C>A g.17227993C>A - - FLCN_000213 - PubMed: Liu et al. 2017b - - Germline - - - - - Derek Lim
+/+ 1 4 c.147del r.(?) p.(Gly50Valfs*5) - pathogenic g.17131306del g.17227992del 602delA - FLCN_000004 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.155del r.(?) p.(Gln53Argfs*2) - pathogenic g.17131297del - - - FLCN_000316 - PubMed: Johannesma et al. 2014 - - Germline - - - - - Kenki Matsumoto
+/+ 1 4 c.157C>T r.(?) p.(Gln53*) - pathogenic g.17131295G>A g.17227981G>A - - FLCN_000215 - PubMed: Liu et al. 2017 - - Germline - - - - - Derek Lim
+/+, +/. 3 4 c.158del r.(?) p.(Gln53Argfs*2) - pathogenic g.17131294del g.17227980del 158delA, c.158delA - FLCN_000152 - PubMed: Rossing et al. 2016 - - Germline - - - - - James Whitworth, Kenki Matsumoto
?/. 1 - c.176G>C r.(?) p.(Arg59Pro) - VUS g.17131276C>G g.17227962C>G - - FLCN_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.185del r.(?) p.(Ser62Thrfs*68) - pathogenic g.17131267del g.17227953del - - FLCN_000216 - PubMed: Iwabuchi et al. 2018 - - Germline - - - - - Derek Lim
?/. 1 - c.188C>A r.(?) p.(Pro63His) - VUS g.17131264G>T g.17227950G>T - - FLCN_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.199dup r.(?) p.(Ala67Glyfs*33) - pathogenic g.17131257dup g.17227943dup - - FLCN_000217 - PubMed: Kato et al. 2015 - - Germline - - - - - Derek Lim
./. 1 - c.205G>A r.(?) p.(Val69Ile) - VUS g.17131247C>T g.17227933C>T - - FLCN_000167 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+ 1 4 c.214del r.(?) p.(Ser72Alafs*58) - pathogenic g.17131238del g.17227924del - - FLCN_000218 - PubMed: Liu et al. 2017 - - Germline - - - - - Derek Lim
-/- 1 1i c.229+994A>G r.(?) p.(?) - benign g.17130229T>C g.17226915T>C -228+994C>T - FLCN_000092 1 more item - - rs41337846 Germline - - - - - Johan den Dunnen
+/+ 1 4 c.233del r.(?) p.(Lys78Serfs*52) - pathogenic g.17131223del g.17227909del - - FLCN_000219 - PubMed: Rossing et al. 2016 - - Germline - - - - - Derek Lim
+/+ 1 4 c.235_238del r.(?) p.(Ser79Thrfs*50) - pathogenic g.17131215_17131218del g.17227901_17227904del 690-3delTCGG - FLCN_000005 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.240del r.(?) p.(Asp80Glufs*50) - pathogenic g.17131212del g.17227898del - - FLCN_000006 - - - - Germline - - - - - Derek Lim
+/+ 1 4 c.241del r.(?) p.(Met81Cysfs*49) - pathogenic g.17131211del g.17227897del - - FLCN_000220 - PubMed: Spring et al. 2013. 2016 - - Germline - - - - - Derek Lim
-?/. 2 - c.246C>T r.(?) p.(Cys82=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 2 4i c.249+1G>A r.spl? p.? - pathogenic g.17131202C>T - - - FLCN_000294 - PubMed: Ardolino et al. 2020, PubMed: Liu et al. 2019 - - Germline - - - - - Kenki Matsumoto
+/+ 1 4i c.249+1G>T r.spl? p.? - pathogenic g.17131202C>A g.17227888C>A - - FLCN_000221 - PubMed: Liu et al. 2017 - - Germline - - - - - Derek Lim
+/+ 5 4i c.250-2A>G r.spl, r.spl? p.? - pathogenic g.17129638T>C g.17226324T>C IVS4-2A>G - FLCN_000049 - PubMed: Mikesell et al 2014, PubMed: Toro et al. 2008 - - Germline - - - - - Johan den Dunnen, Derek Lim, Kenki Matsumoto
+/+ 1 4i c.250-1G>A r.spl p.? - pathogenic g.17129637C>T g.17226323C>T IVS4-1G>A - FLCN_000058 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.250delG r.(?) p.(Gly84Alafs*46) - pathogenic g.17129636delC - - - FLCN_000296 - PubMed: Liu et al. 2019 - - Germline - - - - - Kenki Matsumoto
+/+ 1 4i-5i c.(249+1_250-1)_(396+1_397-1)del r.(=) p.(=) - pathogenic g.(17127458_17129489)_(17129637_17131202)del - .p.Gly84_Glu132del - FLCN_000227 - PubMed: Schneider et al. 2018 - - Germline - - - - - Derek Lim
+/+ 1 4i-14 c.(249+1_250-1)_(*1_?)del r.(?) p.(?) - pathogenic g.(?_17116968)_(17129636_17131202)del - c.250−?_1740+?del - FLCN_000222 - PubMed: Houweling et al. 2011 - - Germline - - - - - Derek Lim
+/+ 1 5 c.252del r.(?) p.(Cys85Alafs*45) - pathogenic g.17129634del g.17226320del 707delC - FLCN_000059 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.252_253insG r.(?) p.(Cys85Valfs*15) - pathogenic g.17129633_17129634insC g.17226319_17226320insC - - FLCN_000223 - PubMed: Liu et al. 2019 - - Germline - - - - - Derek Lim
+/+ 1 5 c.256_269del r.(?) p.(Ser87Alafs*8) - pathogenic g.17129622_17129635del g.17226308_17226321del - - FLCN_000224 - PubMed: Lichte et al. 2012. 2011 - - Germline - - - - - Derek Lim
+/+ 1 5 c.260C>G r.(?) p.(Ser87*) - pathogenic g.17129626G>C g.17226312G>C - - FLCN_000225 - PubMed: Furuya et al. 2016. 2011 - - Germline - - - - - Derek Lim
-?/., ./. 3 - c.268G>T r.(?) p.(Ala90Ser) - likely benign, VUS g.17129618C>A g.17226304C>A FLCN(NM_144997.5):c.268G>T (p.A90S) - FLCN_000166 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - Melissa DeRycke, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/+ 2 5 c.296del r.(?) p.(Asp99Valfs*31) - pathogenic g.17129590del g.17226276del 751delA - FLCN_000007 - PubMed: Toro et al. 2008 - - Germline - - - - - Johan den Dunnen, Kenki Matsumoto
+/+ 1 5 c.318C>G r.(?) p.(Tyr106*) - pathogenic g.17129568G>C g.17226254G>C - - FLCN_000226 - PubMed: Benusiglio et al. 2014 - - Germline - - - - - Derek Lim
+/+, +/. 9 5 c.319_320delinsCAC r.(?) p.(Val107Hisfs*26) - pathogenic g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG 774-5delGTinsCAC - FLCN_000008 - Vernooij et al submitted, PubMed: Houweling et al. 2011, PubMed: Johannesma et al. 2016, 2 more items - - Germline, Unknown - - - - - Johan den Dunnen, Derek Lim, Michel van Geel, Kenki Matsumoto
+/+, +?/+? 2 5 c.323G>T r.(?) p.(Ser108Ile) - likely pathogenic, pathogenic g.17129563C>A g.17226249C>A - - FLCN_000113 - PubMed: Benusiglio et al. 2014 - - Germline - - - - - Johan den Dunnen, Kenki Matsumoto
+/+ 1 5 c.328C>T r.(?) p.(Gln110*) - pathogenic g.17129558G>A g.17226244G>A - - FLCN_000132 - - - - Germline - - - - - Johan den Dunnen
+/+, +?/+? 6 5 c.332_349del r.(?) p.(His111_Gln116del) - likely pathogenic, pathogenic g.17129537_17129554del, g.17129542_17129559del g.17226228_17226245del - - FLCN_000141 predicting protein change;?HPSHPQ? replaced by a single amino acid ?L? PubMed: Furuya et al. 2012, PubMed: Iwabuchi et al. 2018, PubMed: Kato et al. 2016 - - Germline - - - - - Derek Lim, Mitsuko Furuya, Kenki Matsumoto
?/. 1 - c.334C>G r.(?) p.(Pro112Ala) - VUS g.17129552G>C g.17226238G>C - - FLCN_000198 - - - - Germline - - - - - Gunnar Schmidt
+/+ 1 5 c.340dup r.(?) p.(His114Profs*19) - pathogenic g.17129547dup g.17226233dup - - FLCN_000115 Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk. - - - Germline - - - - - Derek Lim
+/. 1 - c.346C>T r.(?) p.(Gln116*) - pathogenic g.17129540G>A g.17226226G>A - - FLCN_000281 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124536 Germline - 1/2795 individuals - - - Mohammed Faruq
+/+, +?/? 4 5 c.347dup r.(?) p.(Leu117Alafs*16) - likely pathogenic, pathogenic g.17129539dup g.17226225dup 802insA, 802dupA - FLCN_000009 - PubMed: Maffe et al. 2010, PubMed: Toro et al. 2008 - - Germline - - - - - Johan den Dunnen, Christopher Watson, Kenki Matsumoto
./+ 1 5 c.365_372del r.(?) p.(Arg122Leufs*8) - pathogenic g.17129514_17129521del - - - FLCN_000295 - PubMed: Bird et al. 2020 - - Germline - - - - - Kenki Matsumoto
+/+ 1 5 c.376del r.(?) p.(Val126Serfs*4) - pathogenic g.17129510del g.17226196del - - FLCN_000228 - PubMed: Alonso-Gonzalez et al. 2011 - - Germline - - - - - Derek Lim
+/+ 1 5 c.394G>A r.(?) p.(Glu132Lys) - pathogenic g.17129492C>T g.17226178C>T - - FLCN_000010 - - - - Germline - - - - - Johan den Dunnen
?/. 2 - c.396+4A>G r.spl? p.? - VUS g.17129486T>C g.17226172T>C FLCN(NM_001353230.1):c.396+4A>G, FLCN(NM_144997.5):c.396+4A>G - FLCN_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.396+10G>A r.(=) p.(=) - likely benign g.17129480C>T g.17226166C>T - - FLCN_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 2 5i c.396+59T>C r.(?) p.(=) - benign g.17129431A>G g.17226117A>G 396+59A>G - FLCN_000070 - - - rs41525346 Germline - - - - - Johan den Dunnen, Andreas Laner
-/-, -/. 4 5i c.397-14C>T r.(=), r.(?) p.(=) - benign g.17127471G>A g.17224157G>A 397-14A>G, FLCN(NM_144997.5):c.397-14C>T - FLCN_000072 VKGL data sharing initiative Nederland - - rs1736219 CLASSIFICATION record, Germline - 0.492 - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/-, -/. 3 5i c.397-13G>A r.(=), r.(?) p.(=) - benign g.17127470C>T g.17224156C>T FLCN(NM_144997.5):c.397-13G>A - FLCN_000071 VKGL data sharing initiative Nederland - - rs3744123 CLASSIFICATION record, Germline - 0.262 - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 1 5i c.397-10_397-1del r.(=) p.(=) - pathogenic g.17127458_17127467del - - - FLCN_000050 - PubMed: Gunji et al. 2007 - - Germline - - - - - Kenki Matsumoto
+/+ 4 5i c.397-7_399del r.?, r.spl p.? - pathogenic g.17127455_17127464del, g.17127458_17127467del g.17224144_17224153del IVS5-1delgtccctccag - FLCN_000050, FLCN_000114 - PubMed: Ishii et al. 2009, PubMed: Iwabuchi et al. 2018 - - Germline - - - - - Johan den Dunnen, Kenki Matsumoto
+/+ 3 5i c.397-1G>C Exon 6 skip, r.spl? p.? - pathogenic g.17127458C>G g.17224144C>G - - FLCN_000143 Exon 6 skip. Unpublished. For further information contact Furuya.mfuruya@yokohama-cu.ac.jp PubMed: Kato et al. 2016, PubMed: Liu et al. 2017 - - Germline - - - - - Mitsuko Furuya, Kenki Matsumoto
+/+ 1 6 c.404del r.(?) p.(Pro135Leufs*42) - pathogenic g.17127452del g.17224138del 857delC - FLCN_000011 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 6 c.420del r.(?) p.(Ile141Serfs*36) - pathogenic g.17127437del g.17224123del 875delC - FLCN_000012 - - - - Germline - - - - - Johan den Dunnen
+/+? 1 6 c.427_429del r.(?) p.(Phe143del) - pathogenic g.17127430_17127432del g.17224116_17224118del - - FLCN_000229 - PubMed: Kim et al. 2012 - - Germline - - - - - Derek Lim
+/+ 1 6 c.443_459del r.(?) p.(His148Profs*46) - pathogenic g.17127399_17127415del g.17224085_17224101del - - FLCN_000087 - - - - Germline - - - - - Maurice van Steensel
+/+ 1 6 c.453del r.(?) p.(Phe152Serfs*25) - pathogenic g.17127401del g.17224087del - - FLCN_000146 - - - - Germline - - - - - Todd Kolb
+/+, +?/+?, ./+? 4 6 c.469_471del r.(?) p.(Phe157del) - likely pathogenic, pathogenic g.17127383_17127385del, g.17127387_17127389del g.17224073_17224075del 924delTTC, c.469_471delTTC - FLCN_000013, FLCN_000288 - PubMed: Byrne et al 2012, PubMed: Liu et al. 2017, PubMed: Shvartsbeyn et al 2012 - - Germline - - - - - Johan den Dunnen, Derek Lim, Kenki Matsumoto
+/+, +/+? 9 6 c.469_471delTTC r.(?) p.(Phe157del) - likely pathogenic, pathogenic g.17127383_17127385delGAA - - - FLCN_000310 - PubMed: Guo et al. 2020, PubMed: Hawkins et al. 2019, PubMed: Houweling et al. 2011, 3 more items - - Germline - - - - - Kenki Matsumoto
+/+ 1 6 c.494del r.(?) p.(Gly165Alafs*12) - pathogenic g.17127363del g.17224049del - - FLCN_000230 - PubMed: Furuya et al. 2016 - - Germline - - - - - Derek Lim
+/+ 3 6 c.499C>T r.(?) p.(Gln167*) - pathogenic g.17127355G>A g.17224041G>A - - FLCN_000144 - PubMed: Demir et al 2016, PubMed: Johannesma et al. 2016 - - De novo, Germline - - - - - Derek Lim, Myrovlytis Trust, Kenki Matsumoto
+/+ 1 6 c.499_500insCTGTGGATGT r.(?) p.(Gln167Profs*36) - pathogenic g.17127354_17127355insACATCCACAG g.17224040_17224041insACATCCACAG - - FLCN_000231 - PubMed: Nikolaidou et al. 2016 - - Germline - - - - - Derek Lim
+/+ 1 6 c.510C>A r.(?) p.(Tyr170*) - pathogenic g.17127344G>T g.17224030G>T - - FLCN_000116 - - - - Germline - - - - - Derek Lim
+/+ 2 6 c.510C>G r.(?) p.(Tyr170*) - pathogenic g.17127344G>C - - - FLCN_000297 - PubMed: Johannesma et al. 2015, PubMed: Zhu et al. 2017 - - Germline - - - - - Kenki Matsumoto
+/+ 1 6 c.543C>G r.(?) p.(Tyr181*) - pathogenic g.17127311G>C g.17223997G>C - - FLCN_000155 - - - - Germline - - - - - Johan den Dunnen
?/. 2 - c.552C>A r.(?) p.(Asn184Lys) - VUS g.17127302G>T g.17223988G>T FLCN(NM_144997.5):c.552C>A (p.N184K) - FLCN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 1 - c.553T>C r.(?) p.(Ser185Pro) - VUS g.17127301A>G g.17223987A>G - - FLCN_000232 - PubMed: Mota-Burgos et al. 2013 - - Germline - - - - - Derek Lim
+/+ 1 6 c.563del r.(?) p.(Phe188Serfs*35) - pathogenic g.17127292del g.17223978del - - FLCN_000175 - - - - Germline - - - - - Johan den Dunnen
+/+ 1 6 c.566_577delinsCC r.(?) p.(Leu189Profs*31) - pathogenic g.17127277_17127288delinsGG g.17223963_17223974delinsGG 564_565dupCC;566_577delTGCTGGGGAAGG - FLCN_000131 - - - - Germline - - - - - Johan den Dunnen
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