"Center for Genomic Medicine, Rigshospitalet, Copenhagen University Ho - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387053	NM_144997.7(FLCN):c.*17G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 1802907	NM_144997.7(FLCN):c.*2C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 819901	NM_144997.7(FLCN):c.1708C>T (p.Arg570Cys)	FLCN (R570C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 938559	NM_144997.7(FLCN):c.1700C>T (p.Ser567Phe)	FLCN (S567F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184907	NM_144997.7(FLCN):c.1692C>T (p.His564=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 1802908	NM_144997.7(FLCN):c.1637del (p.Asn546fs)	FLCN (N546fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 485586	NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	FLCN (N546S +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 184253	NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)	FLCN (D545E +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +7 more	GConflicting classifications of pathogenicity
Select item 579021	NM_144997.7(FLCN):c.1599G>C (p.Gln533His)	FLCN (Q533H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 460602	NM_144997.7(FLCN):c.1539-6C>T	FLCN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2576254	NM_144997.7(FLCN):c.1539-27dup	FLCN	Duplication (intron variant)	not specified	GLikely benign
Select item 2691988	NM_144997.7(FLCN):c.1538+40del	FLCN	Deletion (intron variant)	not specified	GLikely benign
Select item 167073	NM_144997.7(FLCN):c.1538+14T>G	FLCN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41856	NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)	FLCN (K508R +1 more)	Single nucleotide variant (missense variant)	FLCN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 409376	NM_144997.7(FLCN):c.1513G>A (p.Val505Ile)	FLCN (V505I +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GConflicting classifications of pathogenicity
Select item 409392	NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)	FLCN (A488V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 428648	NM_144997.7(FLCN):c.1434G>A (p.Val478=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +3 more	GUncertain significance
Select item 1697655	NM_144997.7(FLCN):c.1433-36C>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1802909	NM_144997.7(FLCN):c.1432+47G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2575117	NM_144997.7(FLCN):c.1432+42C>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3370	NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	FLCN (A445T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2691989	NM_144997.7(FLCN):c.1301-38G>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1802910	NM_144997.7(FLCN):c.1301-40A>G	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697662	NM_144997.7(FLCN):c.1300+48C>G	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 390278	NM_144997.7(FLCN):c.1300+12C>T	FLCN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 134430	NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)	FLCN (P428L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 322064	NM_144997.7(FLCN):c.1281C>G (p.Pro427=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184767	NM_144997.7(FLCN):c.1278C>T (p.Ile426=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +8 more	GBenign/Likely benign
Select item 141725	NM_144997.7(FLCN):c.1269C>T (p.His423=)	FLCN	Single nucleotide variant (synonymous variant)	Familial spontaneous pneumothorax +7 more	GBenign/Likely benign
Select item 818739	NM_144997.7(FLCN):c.1266G>A (p.Pro422=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 96474	NM_144997.7(FLCN):c.1233G>A (p.Glu411=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 389860	NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 512872	NM_144997.7(FLCN):c.1177-21G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 496848	NM_144997.7(FLCN):c.1176+31G>A	FLCN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1697664	NM_144997.7(FLCN):c.1176+30C>T	FLCN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 409405	NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp)	FLCN (R392W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1697665	NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del)	FLCN	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 775049	NM_144997.7(FLCN):c.1101C>T (p.His367=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 253244	NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)	FLCN (W366* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1697666	NM_144997.7(FLCN):c.1097G>A (p.Trp366Ter)	FLCN (W366* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 485585	NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	FLCN (R362C +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +8 more	GUncertain significance
Select item 2576255	NM_144997.7(FLCN):c.1071T>C (p.Gly357=)	FLCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2576256	NM_144997.7(FLCN):c.1062+46A>C	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 265154	NM_144997.7(FLCN):c.1062+2T>G	FLCN	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 186648	NM_144997.7(FLCN):c.1059G>A (p.Arg353=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 134432	NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)	FLCN (R350Q +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1418526	NM_144997.7(FLCN):c.1033G>C (p.Val345Leu)	FLCN (V363L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 41863	NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)	FLCN (R320Q +1 more)	Single nucleotide variant (missense variant)	FLCN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 262549	NM_144997.7(FLCN):c.872-13A>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GBenign
Select item 41862	NM_144997.7(FLCN):c.871+47G>A	FLCN (W306*)	Single nucleotide variant (nonsense +1 more)	FLCN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1697667	NM_144997.7(FLCN):c.871+44G>T	FLCN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1697668	NM_144997.7(FLCN):c.871+35C>T	FLCN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1697669	NM_144997.7(FLCN):c.871+34C>T	FLCN (P302L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1802911	NM_144997.7(FLCN):c.871+32G>A	FLCN (W301*)	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 1802912	NM_144997.7(FLCN):c.871+22C>T	FLCN (P298L)	Single nucleotide variant (missense variant +1 more)	FLCN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 661706	NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	FLCN (R286W +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1697670	NM_144997.7(FLCN):c.780-33G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2576257	NM_144997.7(FLCN):c.779+50G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697671	NM_144997.7(FLCN):c.779+50G>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2576258	NM_144997.7(FLCN):c.779+46_779+47del	FLCN	Deletion (intron variant)	not specified	GLikely benign
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 705986	NM_144997.7(FLCN):c.756G>A (p.Ala252=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 460629	NM_144997.7(FLCN):c.735A>G (p.Thr245=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 96489	NM_144997.7(FLCN):c.726A>T (p.Thr242=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 134427	NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)	FLCN (R239C +1 more)	Single nucleotide variant (missense variant)	FLCN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 826792	NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)	FLCN (G235S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 415627	NM_144997.7(FLCN):c.687C>T (p.Phe229=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +3 more	GBenign/Likely benign
Select item 529983	NM_144997.7(FLCN):c.680C>T (p.Thr227Met)	FLCN (T227M +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1346445	NM_144997.7(FLCN):c.659A>T (p.Gln220Leu)	FLCN (Q238L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1697672	NM_144997.7(FLCN):c.624dup (p.Glu209Ter)	FLCN (E209* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 137384	NM_144997.7(FLCN):c.619-20C>T	FLCN	Single nucleotide variant (intron variant)	Familial spontaneous pneumothorax +6 more	GLikely benign
Select item 2576259	NM_144997.7(FLCN):c.618+36G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2576260	NM_144997.7(FLCN):c.618+29G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2576261	NM_144997.7(FLCN):c.618+28G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697673	NM_144997.7(FLCN):c.618+23G>A	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1802913	NM_144997.7(FLCN):c.603G>C (p.Gln201His)	FLCN (Q201H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 409401	NM_144997.7(FLCN):c.603G>T (p.Gln201His)	FLCN (Q201H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134426	NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)	FLCN (D198N +1 more)	Single nucleotide variant (missense variant)	FLCN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 141552	NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)	FLCN (R194W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 241926	NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)	FLCN (N184K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 409403	NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	FLCN (R179W +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1345989	NM_144997.7(FLCN):c.457A>G (p.Ser153Gly)	FLCN (S153G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 803328	NM_144997.7(FLCN):c.424TTC[1] (p.Phe143del)	FLCN (F161del +1 more)	Microsatellite (inframe_deletion)	Birt-Hogg-Dube syndrome +2 more	GUncertain significance
Select item 530020	NM_144997.7(FLCN):c.429C>T (p.Phe143=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +4 more	GLikely benign
Select item 565593	NM_144997.7(FLCN):c.410G>A (p.Arg137His)	FLCN (R137H +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GUncertain significance
Select item 96485	NM_144997.7(FLCN):c.397-13G>A	FLCN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1547755	NM_144997.7(FLCN):c.397-16G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 1214416	NM_144997.7(FLCN):c.397-21G>C	FLCN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 409395	NM_144997.7(FLCN):c.396+4A>G	FLCN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 1697675	NM_144997.7(FLCN):c.372C>G (p.Ala124=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 485596	NM_144997.7(FLCN):c.346C>A (p.Gln116Lys)	FLCN (Q116K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 530002	NM_144997.7(FLCN):c.333C>T (p.His111=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 41857	NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)	FLCN (A90S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2576262	NM_144997.7(FLCN):c.250-47C>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697676	NM_144997.7(FLCN):c.249+16G>T	FLCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2003506	NM_144997.7(FLCN):c.249+14G>C	FLCN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 184250	NM_144997.7(FLCN):c.246C>T (p.Cys82=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +4 more	GConflicting classifications of pathogenicity

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