C0346010[trait identifier] AND "Division of Respiratory Medicine of Ju - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578480	NM_144997.7(FLCN):c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556fs)	FLCN (G556fs +1 more)	Insertion (frameshift variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2578479	NM_144997.7(FLCN):c.1599_1600del (p.Lys534fs)	FLCN (K534fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578478	NM_144997.7(FLCN):c.1589dup (p.Asp531fs)	FLCN (D531fs +1 more)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 253259	NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	FLCN (R527fs +1 more)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2578476	NM_144997.7(FLCN):c.1556_1562del (p.Phe519fs)	FLCN (F519fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578475	NM_144997.7(FLCN):c.1553T>C (p.Leu518Pro)	FLCN (L518P +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578474	NM_144997.7(FLCN):c.1538+1G>T	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3372	NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer)	FLCN	Deletion (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 96478	NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	FLCN (W511* +1 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 96477	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN (K508del +1 more)	Deletion (inframe_deletion)	FLCN-related condition +3 more	GPathogenic/Likely pathogenic
Select item 2578473	NM_144997.7(FLCN):c.1511_1512del (p.Leu504fs)	FLCN (L504fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578472	NM_144997.7(FLCN):c.1490_1491del (p.Val497fs)	FLCN (V497fs +1 more)	Microsatellite (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1772544	NM_144997.7(FLCN):c.1433-1G>T	FLCN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 253251	NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	FLCN (R477* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 2578471	NM_144997.7(FLCN):c.1390G>T (p.Glu464Ter)	FLCN (E464* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1073198	NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs)	FLCN (V452fs +1 more)	Microsatellite (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 439732	NM_144997.7(FLCN):c.1301-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2578470	NM_144997.7(FLCN):c.1300+2T>C	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 253248	NM_144997.7(FLCN):c.1300+1G>A	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3363	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN (H447fs +1 more)	Duplication (frameshift variant)	FLCN-related condition +7 more	GPathogenic
Select item 3364	NM_144997.7(FLCN):c.1285del (p.His429fs)	FLCN (H447fs +1 more)	Deletion (frameshift variant)	FLCN-related condition +7 more	GPathogenic
Select item 2578469	NM_144997.7(FLCN):c.1273C>T (p.Gln425Ter)	FLCN (Q425* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 220767	NM_144997.7(FLCN):c.1252del (p.Leu418fs)	FLCN (L418fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome +2 more	GPathogenic
Select item 2578468	NM_144997.7(FLCN):c.1228G>T (p.Glu410Ter)	FLCN (E410* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 228691	NM_144997.7(FLCN):c.1177-5_1177-3del	FLCN	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1076910	NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter)	FLCN (Q385* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome +1 more	GPathogenic
Select item 2578502	NM_144997.7(FLCN):c.1126T>A (p.Trp376Arg)	FLCN (W376R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578491	NM_144997.7(FLCN):c.1063-10_1065del	FLCN	Deletion (splice acceptor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1408666	NM_144997.7(FLCN):c.1063-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic/Likely pathogenic
Select item 428646	NM_144997.7(FLCN):c.1062+1G>A	FLCN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 96467	NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)	FLCN (Q354* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1458404	NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter)	FLCN (Q339* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2578466	NM_144997.7(FLCN):c.1007_1010del (p.Gly336fs)	FLCN (G336fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578508	NM_144997.7(FLCN):c.998C>G (p.Ser333Ter)	FLCN (S333* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 529991	NM_144997.7(FLCN):c.997_998del (p.Ser333fs)	FLCN (S333fs +1 more)	Microsatellite (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578507	NM_144997.7(FLCN):c.989_990dup (p.Ser331fs)	FLCN (S331fs +1 more)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 662576	NM_144997.7(FLCN):c.946_947del (p.Ser316fs)	FLCN (S316fs +1 more)	Microsatellite (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 373895	NM_144997.7(FLCN):c.932_933del (p.Pro311fs)	FLCN (P329fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2578506	NM_144997.7(FLCN):c.922G>T (p.Glu308Ter)	FLCN (E308* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578505	NM_144997.7(FLCN):c.922del (p.Glu308fs)	FLCN (E308fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578504	NM_144997.7(FLCN):c.907G>T (p.Glu303Ter)	FLCN (E303* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578503	NM_144997.7(FLCN):c.906dup (p.Glu303Ter)	FLCN (E303* +1 more)	Duplication (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 643432	NM_144997.7(FLCN):c.889_890del (p.Glu297fs)	FLCN (E297fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2578501	NM_144997.7(FLCN):c.887C>A (p.Ser296Ter)	FLCN (S296* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578500	NM_144997.7(FLCN):c.859G>T (p.Glu287Ter)	FLCN (E287* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 253239	NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)	FLCN (Q285* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome +2 more	GPathogenic
Select item 2578499	NM_144997.7(FLCN):c.838_839delinsTTGGTC (p.Glu280fs)	FLCN (E280fs +1 more)	Indel (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 449726	NM_144997.7(FLCN):c.780-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome +2 more	GPathogenic/Likely pathogenic
Select item 231274	NM_144997.7(FLCN):c.779+1G>T	FLCN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
Select item 2578498	NM_144997.7(FLCN):c.770_773del (p.Ser257fs)	FLCN (S257fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1760219	NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)	FLCN (S275del +1 more)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 2566309	NM_144997.7(FLCN):c.658C>T (p.Gln220Ter)	FLCN (Q220* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1752068	NM_144997.7(FLCN):c.618+1G>A	FLCN	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578496	NM_144997.7(FLCN):c.605dup (p.Lys203fs)	FLCN (K203fs +1 more)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2505673	NM_144997.7(FLCN):c.601C>T (p.Gln201Ter)	FLCN (Q201* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome +1 more	GPathogenic
Select item 2578495	NM_144997.7(FLCN):c.566_577delinsCC (p.Leu189fs)	FLCN (L189fs +1 more)	Indel (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 186785	NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	FLCN (F157del +1 more)	Microsatellite (inframe_deletion)	Nonpapillary renal cell carcinoma +6 more	GPathogenic/Likely pathogenic
Select item 2578494	NM_144997.7(FLCN):c.439C>T (p.Gln147Ter)	FLCN (Q147* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3373	NM_144997.7(FLCN):c.404del (p.Pro135fs)	FLCN (P153fs +1 more)	Deletion (frameshift variant)	Familial spontaneous pneumothorax +1 more	GPathogenic
Select item 2578493	NM_144997.7(FLCN):c.397-7_399del	FLCN	Deletion (splice acceptor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578488	NM_144997.7(FLCN):c.397-1_397delinsC	FLCN	Indel (splice acceptor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578490	NM_144997.7(FLCN):c.397-1G>C	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1072205	NM_144997.7(FLCN):c.397-1G>T	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2578492	NM_144997.7(FLCN):c.397-2A>C	FLCN	Single nucleotide variant (splice acceptor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578489	NM_144997.7(FLCN):c.397-13_397-4del	FLCN	Deletion (intron variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1524886	NM_144997.7(FLCN):c.396+1G>A	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome +1 more	GLikely pathogenic
Select item 2578487	NM_144997.7(FLCN):c.332_349del (p.His111_Gln116del)	FLCN	Deletion (inframe_deletion)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578486	NM_144997.7(FLCN):c.328C>T (p.Gln110Ter)	FLCN (Q110*)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578485	NM_144997.7(FLCN):c.318C>G (p.Tyr106Ter)	FLCN (Y106*)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578484	NM_144997.7(FLCN):c.236C>A (p.Ser79Ter)	FLCN (S79*)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2576263	NM_144997.7(FLCN):c.199dup (p.Ala67fs)	FLCN (A67fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2578481	NM_144997.7(FLCN):c.168_193del (p.Ser56fs)	FLCN (S56fs)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578483	NM_144997.7(FLCN):c.185del (p.Ser62fs)	FLCN (S62fs)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578482	NM_144997.7(FLCN):c.179dup (p.His61fs)	FLCN (H61fs)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578477	NM_144997.7(FLCN):c.156dup (p.Gln53fs)	FLCN (Q53fs)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578467	NM_144997.7(FLCN):c.119del (p.Gly40fs)	FLCN (G40fs)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578497	NM_144997.7(FLCN):c.65C>A (p.Thr22Lys)	FLCN (T22K)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1068469	NM_144997.7(FLCN):c.57_58del (p.Phe20fs)	FLCN (F20fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 660305	NM_144997.7(FLCN):c.31T>G (p.Cys11Gly)	FLCN (C11G)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 989474	NC_000017.10:g.(?_17140226)_(17140502_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578465	NC_000017.11:g.(?_17219209)_(17212212_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578464	NC_000017.11:g.(?_17224143)_(17219019_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578463	NC_000017.11:g.(?_17213856)_(17212212_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578462	NC_000017.11:g.(?_17237168)_(17231794_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2578461	NC_000017.11:g.(?_17237168)_(17236912_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic

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Items: 85