"Sema4, Sema4"[submitter] AND "FLCN"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415623	NM_144997.7(FLCN):c.1704G>A (p.Thr568=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 184907	NM_144997.7(FLCN):c.1692C>T (p.His564=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 428639	NM_144997.7(FLCN):c.1584del (p.Glu530fs)	FLCN (E548fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 167073	NM_144997.7(FLCN):c.1538+14T>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GBenign/Likely benign
Select item 409392	NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)	FLCN (A488V +1 more)	Single nucleotide variant (missense variant)	Familial spontaneous pneumothorax +5 more	GConflicting classifications of pathogenicity
Select item 1590756	NM_144997.7(FLCN):c.1433-20_1433-10del	FLCN	Deletion (intron variant)	FLCN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1579661	NM_144997.7(FLCN):c.1433-13C>T	FLCN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 322061	NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)	FLCN (R477Q +1 more)	Single nucleotide variant (missense variant)	Spontaneous pneumothorax +7 more	GConflicting classifications of pathogenicity
Select item 241918	NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala)	FLCN (P472A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 409380	NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)	FLCN (Y463H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 230541	NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)	FLCN (E455G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 415613	NM_144997.7(FLCN):c.1350C>T (p.His450=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3370	NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	FLCN (A445T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 80367	NM_144997.7(FLCN):c.1332C>T (p.Ala444=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1011242	NM_144997.7(FLCN):c.1312A>T (p.Ile438Phe)	FLCN (I438F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1692070	NM_144997.7(FLCN):c.1306G>A (p.Ala436Thr)	FLCN (A436T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3363	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN (H447fs +1 more)	Duplication (frameshift variant)	Familial spontaneous pneumothorax +7 more	GPathogenic
Select item 322064	NM_144997.7(FLCN):c.1281C>G (p.Pro427=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 485631	NM_144997.7(FLCN):c.1279C>A (p.Pro427Thr)	FLCN (P427T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GUncertain significance
Select item 184767	NM_144997.7(FLCN):c.1278C>T (p.Ile426=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 186952	NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg)	FLCN (Q425R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141725	NM_144997.7(FLCN):c.1269C>T (p.His423=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 241914	NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys)	FLCN (R401C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96472	NM_144997.7(FLCN):c.1198G>T (p.Val400Phe)	FLCN (V400F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GConflicting classifications of pathogenicity
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 460584	NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)	FLCN (A387V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 409383	NM_144997.7(FLCN):c.1155G>T (p.Gln385His)	FLCN (Q385H +1 more)	Single nucleotide variant (missense variant)	FLCN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 96470	NM_144997.7(FLCN):c.1149C>T (p.Leu383=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 460582	NM_144997.7(FLCN):c.1140C>T (p.Asp380=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 1022766	NM_144997.7(FLCN):c.1120G>C (p.Val374Leu)	FLCN (V374L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 529995	NM_144997.7(FLCN):c.1085G>A (p.Arg362His)	FLCN (R362H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1083440	NM_144997.7(FLCN):c.1068G>T (p.Leu356=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 1124877	NM_144997.7(FLCN):c.1063-10T>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +1 more	GConflicting classifications of pathogenicity
Select item 186648	NM_144997.7(FLCN):c.1059G>A (p.Arg353=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +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)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 41863	NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)	FLCN (R320Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 460641	NM_144997.7(FLCN):c.931C>T (p.Pro311Ser)	FLCN (P311S +1 more)	Single nucleotide variant (missense variant)	FLCN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 485604	NM_144997.7(FLCN):c.915A>G (p.Glu305=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 460640	NM_144997.7(FLCN):c.882G>A (p.Glu294=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 262549	NM_144997.7(FLCN):c.872-13A>G	FLCN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 41862	NM_144997.7(FLCN):c.871+47G>A	FLCN (W306*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 460636	NM_144997.7(FLCN):c.867C>T (p.Leu289=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related disorder +7 more	GLikely benign
Select item 230377	NM_144997.7(FLCN):c.810C>A (p.Thr270=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 415618	NM_144997.7(FLCN):c.792G>A (p.Ala264=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +6 more	GBenign/Likely benign
Select item 530018	NM_144997.7(FLCN):c.780-6C>T	FLCN	Single nucleotide variant (intron variant)	FLCN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 485582	NM_144997.7(FLCN):c.779+5C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +5 more	GConflicting classifications of pathogenicity
Select item 134427	NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)	FLCN (R239C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 187695	NM_144997.7(FLCN):c.711C>T (p.Ala237=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 703747	NM_144997.7(FLCN):c.702C>T (p.Asn234=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 415627	NM_144997.7(FLCN):c.687C>T (p.Phe229=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 760016	NM_144997.7(FLCN):c.654T>C (p.Arg218=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 460625	NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	FLCN (Q212K +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460624	NM_144997.7(FLCN):c.619-6T>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +1 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)	Birt-Hogg-Dube syndrome +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)	Birt-Hogg-Dube syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134425	NM_144997.7(FLCN):c.502C>T (p.Arg168Cys)	FLCN (R168C +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 842352	NM_144997.7(FLCN):c.478G>T (p.Asp160Tyr)	FLCN (D178Y +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GUncertain significance
Select item 241925	NM_144997.7(FLCN):c.450T>C (p.Phe150=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 253229	NM_144997.7(FLCN):c.445G>A (p.Gly149Ser)	FLCN (G149S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 460615	NM_144997.7(FLCN):c.444C>T (p.His148=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 513261	NM_144997.7(FLCN):c.397-12G>T	FLCN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 409395	NM_144997.7(FLCN):c.396+4A>G	FLCN	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1692073	NM_144997.7(FLCN):c.337A>C (p.Ser113Arg)	FLCN (S113R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1485915	NM_144997.7(FLCN):c.281G>A (p.Gly94Glu)	FLCN (G94E)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
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 184250	NM_144997.7(FLCN):c.246C>T (p.Cys82=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1112102	NM_144997.7(FLCN):c.237G>A (p.Ser79=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 388283	NM_144997.7(FLCN):c.204C>T (p.Ser68=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +3 more	GLikely benign
Select item 415620	NM_144997.7(FLCN):c.75G>A (p.Leu25=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 485606	NM_144997.7(FLCN):c.9C>T (p.Ala3=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 322076	NM_144997.7(FLCN):c.-93C>T	FLCN	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 1692071	NM_144997.7(FLCN):c.-227-11dup	FLCN	Duplication (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692072	NM_144997.7(FLCN):c.-227-12dup	FLCN	Duplication (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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Items: 73