All transcript variants in gene FLCN

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ _1_1i c.-5575_-228+341delinsCCCCCATGG - r.(?) p.? g.17139885_17145573delinsCCATGGGGG g.17236571_17242259delinsCCATGGGGG hg18 g.17080610_17086298del - FLCN_000179 - PubMed: Benhammou 2011 - - Germline yes - - 0 - Johan den Dunnen
+/+ _1_1i c.-4174_-227-1566del - r.(?) p.? g.17137781_17144172del g.17234467_17240858del hg18 g.17078506_17084897del - FLCN_000138 - PubMed: Benhammou 2011 - - Germline - - - 0 - Johan den Dunnen
+/+ _1_1i c.(?_-504)_(-228+1_-227-1)del - r.(?) p.? g.(17136216_17140225)_(17140502del_?)del - - - FLCN_000181 - PubMed: Benhammou 2011 - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-487G>C - r.(?) p.(?) g.17140485C>G g.17237171C>G - - FLCN_000089 - - - rs1736209 Germline - - - 0 - Johan den Dunnen
-/- 1 c.-302G>A - r.(?) p.(?) g.17140300C>T g.17236986C>T c-302C>T - FLCN_000090 - - - rs41345949 Germline - - - 0 - Johan den Dunnen
-/- 1 c.-299C>T - r.(?) p.(?) g.17140297G>A g.17236983G>A -299G>A - FLCN_000091 - - - rs1708629 Germline - - - 0 - Johan den Dunnen
+/+ 1i_12i c.(-228+1_-227-1)_(1432+1_1433-1)dup - r.(?) p.? g.(17118405_17118498)_(17136216_17140225)dup - c.-227-?_1432+?dup - FLCN_000140 large intragenic duplication - - - Germline - - - 0 - Derek Lim
-/- 1i c.-228+1368G>T - r.(?) p.(?) g.17138858C>A g.17235544C>A -228+1368C>A - FLCN_000093 - - - rs41388547 Germline - - - 0 - Johan den Dunnen
+/+ 1i_5i c.-227-853_397-295del - r.(?) p.? g.17127752_17137068del g.17224438_17233754del - - FLCN_000136 large intragenic deletion PubMed: Benhammou 2011 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.-93C>T - r.(?) p.(=) g.17135176G>A g.17231862G>A - - FLCN_000160 - - - rs115413827 Germline - MAF 0.02 - 0 - Andreas Laner
-/- 3 c.-90A>G - r.(?) p.(?) g.17135173T>C g.17231859T>C -90T>C - FLCN_000094 - - - rs8069957 Germline - - - 0 - Johan den Dunnen
-/- 3i c.-25+100C>G - r.(?) p.(?) g.17135008G>C g.17231694G>C - - FLCN_000095 - - - rs1736212 Germline - - - 0 - Johan den Dunnen
+/+ _1_1 c.c.-6544_-228+454delins-3779_-3655inv - r.(?) p.? g.17139772_17146542delins17143653_17143777inv - hg18 17080497_17087267del;17084378_17084502invins - FLCN_000180 - PubMed: Benhammou 2011 - - Germline - - - 0 - Johan den Dunnen
-/- 3i c.1-64A>G - r.(?) p.(?) g.17131515T>C g.17228201T>C rs8069957 - FLCN_000069 observed with another pathogenic mutation - - - Germline - - - 0 - Derek Lim
+/+ 4 c.1A>G - r.(?) p.? g.17131451T>C g.17228137T>C - - FLCN_000001 affects splicesite and start codon. - - - Germline - - - 0 - Derek Lim
./. - c.1G>A - - - g.17131451C>T g.17228137C>T - - FLCN_000168 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/+ 4 c.3delG - r.(?) p.? g.17131449delC g.17228135delC 458delG - FLCN_000002 mutation in start codon. Predicted no translation. Previously reported as c.458delG. - - - Germline - - - 0 - Johan den Dunnen
+?/+ 4 c.3G>A - r.(?) p.? g.17131449C>T g.17228135C>T - - FLCN_000119 - - - - Germline - - - 0 - Lieke Gijezen
+?/+? 4 c.20T>C - r.(?) p.(Leu7Pro) g.17131432A>G g.17228118A>G - - FLCN_000149 - - - - Germline - - - 0 - Mitsuko Furuya
+/+ 4 c.50G>C - r.(?) p.(Arg17Pro) g.17131402C>G g.17228088C>G - - FLCN_000153 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.59delT - r.(?) p.(Phe20Serfs*35) g.17131393delA g.17228079delA - - FLCN_000003 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.97dupG - r.(?) p.(Asp33Glyfs*4) g.17131355dupC g.17228041dupC - - FLCN_000135 Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - Germline - - - 0 - Derek Lim
+/+ 4 c.147delA - r.(?) p.(Gly50Valfs*5) g.17131305delT g.17227991delT 602delA - FLCN_000004 - - - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.158del - r.(?) p.(Gln53Argfs*2) g.17131294del g.17227980del 158delA - FLCN_000152 - - - - Germline - - - 0 - James Whitworth
./. - c.205G>A - r.(?) p.(Val69Ile) g.17131247C>T g.17227933C>T - - FLCN_000167 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-/- 1i c.229+994A>G - r.(?) p.(?) g.17130229T>C g.17226915T>C -228+994C>T - FLCN_000092 - - - rs41337846 Germline - - - 0 - Johan den Dunnen
+/+ 4 c.235_238del - r.(?) p.(Ser79Thrfs*50) g.17131214_17131217del g.17227900_17227903del 690-3delTCGG - FLCN_000005 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.240delC - r.(?) p.(Asp80Glufs*50) g.17131212delG g.17227898delG - - FLCN_000006 - - - - Germline - - - 0 - Derek Lim
-?/. - c.246C>T likely benign r.(=) p.(=) g.17131206G>A - FLCN:c.246C>T (C82=) - FLCN_000197 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 4i c.250-2A>G - r.spl p.? g.17129638T>C g.17226324T>C IVS4-2A>G - FLCN_000049 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 4i c.250-1G>A - r.spl p.? g.17129637C>T g.17226323C>T IVS4-1G>A - FLCN_000058 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.252delC - r.(?) p.(Cys85Alafs*45) g.17129634delG g.17226320delG 707delC - FLCN_000059 - - - - Germline - - - 0 - Johan den Dunnen
./. - c.268G>T - r.(?) p.(Ala90Ser) g.17129618C>A g.17226304C>A - - FLCN_000166 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.268G>T likely benign r.(?) p.(Ala90Ser) g.17129618C>A - FLCN:c.268G>T (A90S) - FLCN_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 5 c.296delA - r.(?) p.(Asp99Valfs*31) g.17129590delT g.17226276delT 751delA - FLCN_000007 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.319_320delGTinsCAC - r.(?) p.(Val107Hisfs*26) g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG 774-5delGTinsCAC - FLCN_000008 - - - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.319_320delinsCAC 5 r.(?) p.(Val107Hisfs*26) g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Germline - - - 0 - Michel van Geel
+/. 5 c.319_320delinsCAC - r.(?) p.(Val107Hisfs*26) g.17129566_17129567delinsGTG g.17226252_17226253delinsGTG - - FLCN_000008 - Vernooij et al submitted - - Unknown - - - 0 - Michel van Geel
+?/+? 5 c.323G>T - r.(?) p.(Ser108Ile) g.17129563C>A g.17226249C>A - - FLCN_000113 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.328C>T - r.(?) p.(Gln110*) g.17129558G>A g.17226244G>A - - FLCN_000132 - - - - Germline - - - 0 - Johan den Dunnen
+?/+? 5 c.332_349del - r.(?) p.(His111_Gln116del) g.17129537_17129554del g.17226223_17226240del - - FLCN_000141 predicting protein change;?HPSHPQ? replaced by a single amino acid ?L? - - - Germline - - - 0 - Mitsuko Furuya
?/. - c.334C>G class 3 r.(?) p.(Pro112Ala) g.17129552G>C g.17226238G>C - - FLCN_000198 - - - - Germline - - - 0 - Gunnar Schmidt
+/+ 5 c.340dupC - r.(?) p.(His114Profs*19) g.17129546dupG g.17226232dupG - - FLCN_000115 Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk. - - - Germline - - - 0 - Derek Lim
+?/? 5 c.347dup - r.(?) p.(Leu117Alafs*16) g.17129539dup g.17226225dup - - FLCN_000009 - - - - Germline - - - 0 - Christopher Watson
+/+ 5 c.347dup - r.(?) p.(Leu117Alafs*16) g.17129539dup g.17226225dup 802insA, 802dupA - FLCN_000009 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.394G>A - r.(?) p.(Glu132Lys) g.17129492C>T g.17226178C>T - - FLCN_000010 - - - - Germline - - - 0 - Johan den Dunnen
?/. - c.396+4A>G VUS r.spl? p.? g.17129486T>C - FLCN:c.396+4A>G - FLCN_000196 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/- 5i c.396+59T>C - r.(?) p.(=) g.17129431A>G g.17226117A>G - - FLCN_000070 - - - rs41525346 Germline - - - 0 - Andreas Laner
-/- 5i c.396+59T>C - r.(?) p.(=) g.17129431A>G g.17226117A>G 396+59A>G - FLCN_000070 - - - rs41525346 Germline - - - 0 - Johan den Dunnen
-/- 5i c.397-14C>T - r.(?) p.(=) g.17127471G>A g.17224157G>A 397-14A>G - FLCN_000072 - - - rs1736219 Germline - 0.492 - 0 - Johan den Dunnen
-/. - c.397-14C>T benign r.(=) p.(=) g.17127471G>A - FLCN:c.397-14C>T - FLCN_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.397-14C>T benign r.(=) p.(=) g.17127471G>A - FLCN:c.397-14C>T - FLCN_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.397-14C>T benign r.(=) p.(=) g.17127471G>A - FLCN:NM_144997.5:c.397-14C>T (?) - FLCN_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 5i c.397-13G>A - r.(?) p.(=) g.17127470C>T g.17224156C>T - - FLCN_000071 - - - rs3744123 Germline - 0.262 - 0 - Johan den Dunnen
-/. - c.397-13G>A benign r.(=) p.(=) g.17127470C>T - FLCN:c.397-13G>A - FLCN_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 5i c.397-10_397-1del - r.spl p.(=) g.17127458_17127467del g.17224144_17224153del IVS5-1delgtccctccag - FLCN_000050 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5i c.397-7_399del - r.spl p.? g.17127455_17127464del g.17224141_17224150del - - FLCN_000114 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 5i c.397-1G>C - Exon 6 skip p.? g.17127458C>G g.17224144C>G - - FLCN_000143 Exon 6 skip. Unpublished. For further information contact Furuya.mfuruya@yokohama-cu.ac.jp - - - Germline - - - 0 - Mitsuko Furuya
+/+ 6 c.404delC - r.(?) p.(Pro135Leufs*42) g.17127450delG g.17224136delG 857delC - FLCN_000011 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.420delC - r.(?) p.(Ile141Serfs*36) g.17127434delG g.17224120delG 875delC - FLCN_000012 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.443_459del - r.(?) p.(His148Profs*46) g.17127395_17127411del g.17224081_17224097del - - FLCN_000087 - - - - Germline - - - 0 - Maurice van Steensel
+/+ 6 c.453delG - r.(?) p.(Phe152Serfs*25) g.17127401delC g.17224087delC - - FLCN_000146 - - - - Germline - - - 0 - Todd Kolb
+?/+? 6 c.469_471delTTC - r.(?) p.(Phe157del) g.17127383_17127385del g.17224069_17224071delGAA 924delTTC - FLCN_000013 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.499C>T - r.(?) p.(Gln167*) g.17127355G>A g.17224041G>A - - FLCN_000144 - - - - De novo - - - 0 - Myrovlytis Trust
+/+ 6 c.510C>A - r.(?) p.(Tyr170*) g.17127344G>T g.17224030G>T - - FLCN_000116 - - - - Germline - - - 0 - Derek Lim
+/+ 6 c.543C>G - r.(?) p.(Tyr181*) g.17127311G>C g.17223997G>C - - FLCN_000155 - - - - Germline - - - 0 - Johan den Dunnen
?/. - c.552C>A VUS r.(?) p.(Asn184Lys) g.17127302G>T - FLCN:c.552C>A (N184K) - FLCN_000195 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 6 c.563delT - r.(?) p.(Phe188Serfs*35) g.17127291delA g.17223977delA - - FLCN_000175 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.566_577delTGCTGGGGAAGGinsCC - r.(?) p.(Leu189Profs*31) g.17127277_17127288delinsGG g.17223963_17223974delinsGG 564_565dupCC;566_577delTGCTGGGGAAGG - FLCN_000131 - - - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.573del - r.(?) p.(Lys192Argfs*31) g.17127281del g.17223967del - - FLCN_000154 - - - - Germline - - - 0 - Andreas Laner
./. - c.580C>T - r.(?) p.(Arg194Trp) g.17127274G>A g.17223960G>A - - FLCN_000165 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/+ 6 c.583G>T - r.(?) p.(Gly195*) g.17127271C>A g.17223957C>A - - FLCN_000014 - - - - Germline - - - 0 - Derek Lim
+/+ 6 c.584delG - r.(?) p.(Gly195Glufs*28) g.17127270delC g.17223956delC 1039delG, 1036delG - FLCN_000015 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 6 c.610_611delGCinsTA - r.(?) p.(Ala204*) g.17127243_17127244delinsTA g.17223929_17223930delinsTA 1065-6delGCinsTA - FLCN_000016 - - - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.610_611delinsTA 5 r.(?) p.(Ala204*) g.17127243_17127244delinsTA g.17223929_17223930delinsTA - - FLCN_000016 - Vernooij et al submitted - - Germline yes - - 0 - Michel van Geel
+/. 6 c.610_611delinsTA 5 r.(?) p.(Ala204*) g.17127243_17127244delinsTA g.17223929_17223930delinsTA - - FLCN_000016 - Vernooij et al submitted - - Germline yes - - 0 - Michel van Geel
+/. 6 c.610_611delinsTA 5 r.(?) p.(Ala204*) g.17127243_17127244delinsTA g.17223929_17223930delinsTA - - FLCN_000016 - Vernooij et al submitted - - Unknown - - - 0 - Michel van Geel
+/. 6 c.610_611delinsTA 5 r.(?) p.(Ala204*) g.17127243_17127244delinsTA g.17223929_17223930delinsTA - - FLCN_000016 - Vernooij et al submitted - - Germline yes - - 0 - Michel van Geel
+/+? 6i c.618+2T>A - r.spl p.? g.17127234A>T g.17223920A>T - - FLCN_000111 - - - - Germline - - - 0 - Johan den Dunnen
-/- 6i c.619-66C>T - r.(?) p.(=) g.17126041G>A g.17222727G>A - - FLCN_000073 - - - rs2292527 Germline - up to 0.14 - 0 - Andreas Laner
-/- 6i c.619-66C>T - r.(?) p.(=) g.17126041G>A g.17222727G>A IVS6-66C>T 619-66G>A - FLCN_000073 - - - rs2292527 Germline - 0.130 - 0 - Johan den Dunnen
-?/. - c.619-20C>T likely benign r.(=) p.(=) g.17125995G>A - FLCN:c.619-20C>T - FLCN_000194 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 6i c.619-1G>A - r.spl p.? g.17125976C>T g.17222662C>T IVS6-1G>A 1074-1G>A - FLCN_000051 - - - - Germline - - - 0 - Johan den Dunnen
+/. - c.619-1G>A pathogenic r.spl? p.? g.17125976C>T - FLCN:c.619-1G>A - FLCN_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 6i_14_ c.(618+1_619-1)_(*1_?)del - r.(?) p.(?) g.(?_17116968)_(17125976_17127235)del - c.675-?_c.*+?del - FLCN_000137 large intragenic deletion PubMed: Benhammou 2011 - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.632_633delAGinsC - r.(?) p.(Glu211Alafs*12) g.17125961_17125962delinsG g.17222647_17222648delinsG 1087delAGinsC - FLCN_000017 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.637delT - r.(?) p.(Phe213Leufs*10) g.17125957delA g.17222643delA 1092delT - FLCN_000060 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.649C>T - r.(?) p.(Gln217*) g.17125945G>A g.17222631G>A - - FLCN_000112 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.655dupG - r.(?) p.(Ala219Glyfs*29) g.17125939dupC g.17222625dupC 1110dupG - FLCN_000018 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.671_672delCA - r.(?) p.(Thr224Serfs*23) g.17125922_17125923delTG g.17222608_17222609delTG 1126delCA - FLCN_000061 - - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.689dupT - r.(?) p.(His231Thrfs*17) g.17125905dupA g.17222591dupA - - FLCN_000117 Unpublished. For further details contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - Germline - - - 0 - Derek Lim
+/. 7 c.715C>T - r.(?) p.(Arg239Cys) g.17125879G>A g.17222565G>A - - FLCN_000019 - - - - Germline - - - 0 - James Whitworth
./. - c.715C>T - r.(?) p.(Arg239Cys) g.17125879G>A g.17222565G>A - - FLCN_000019 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+?/+? 7 c.715C>T - r.(?) p.(Arg239Cys) g.17125879G>A g.17222565G>A 1213C>T - FLCN_000019 - - - - Germline - - - 0 - Johan den Dunnen
?/. - c.715C>T VUS r.(?) p.(Arg239Cys) g.17125879G>A - FLCN:NM_144997.5(FLCN):c.715C>T (Arg239Cys) - FLCN_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 7 c.726A>T - r.(=) p.(Thr242=) g.17125868T>A g.17222554T>A - - FLCN_000074 - - - rs113938514 Germline - 0.02-0.05 - 0 - Andreas Laner
-/- 7 c.726A>T - r.(?) p.(=) g.17125868T>A g.17222554T>A - - FLCN_000074 Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - Germline - - - 0 - Derek Lim
-/. - c.726A>T benign r.(=) p.(=) g.17125868T>A - FLCN:c.726A>T (=) - FLCN_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.726A>T benign r.(=) p.(=) g.17125868T>A - FLCN:c.726A>T (=) - FLCN_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 7 c.769_771del - r.(?) p.(Ser257del) g.17125823_17125825del g.17222509_17222511del - - FLCN_000125 - - - - Germline - - - 0 - Johan den Dunnen
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