"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FLCN"[gene - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322046	NM_144997.7(FLCN):c.*695C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Familial spontaneous pneumothorax +2 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)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
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 96477	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN (K508del +1 more)	Deletion (inframe_deletion)	Birt-Hogg-Dube syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3370	NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	FLCN (A445T +1 more)	Single nucleotide variant (missense variant)	Familial spontaneous pneumothorax +4 more	GConflicting classifications of pathogenicity
Select item 96475	NM_144997.7(FLCN):c.1305del (p.Phe435fs)	FLCN (F435fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome +2 more	GPathogenic
Select item 390278	NM_144997.7(FLCN):c.1300+12C>T	FLCN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3363	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN (H447fs +1 more)	Duplication (frameshift variant)	not provided +7 more	GPathogenic
Select item 322064	NM_144997.7(FLCN):c.1281C>G (p.Pro427=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184767	NM_144997.7(FLCN):c.1278C>T (p.Ile426=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +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 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 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 322065	NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)	FLCN (P326L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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)	Familial spontaneous pneumothorax +5 more	GConflicting classifications of pathogenicity
Select item 1175908	NM_144997.7(FLCN):c.871+129C>T	FLCN (R334W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 41862	NM_144997.7(FLCN):c.871+47G>A	FLCN (W306*)	Single nucleotide variant (nonsense +1 more)	not provided +4 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)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
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 659786	NM_144997.7(FLCN):c.563del (p.Phe188fs)	FLCN (F188fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic
Select item 409403	NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	FLCN (R179W +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +7 more	GConflicting classifications of pathogenicity
Select item 186785	NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	FLCN (F157del +1 more)	Microsatellite (inframe_deletion)	Colorectal cancer +6 more	GPathogenic/Likely pathogenic
Select item 460616	NM_144997.7(FLCN):c.451G>A (p.Val151Met)	FLCN (V151M +1 more)	Single nucleotide variant (missense variant)	Carcinoma of colon +6 more	GConflicting classifications of pathogenicity
Select item 460615	NM_144997.7(FLCN):c.444C>T (p.His148=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +3 more	GConflicting classifications of pathogenicity
Select item 530020	NM_144997.7(FLCN):c.429C>T (p.Phe143=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2570976	NM_144997.7(FLCN):c.259_280del (p.Ser87fs)	FLCN (S87fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 485591	NM_144997.7(FLCN):c.207C>T (p.Val69=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 485613	NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	FLCN (A45V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 409408	NM_144997.7(FLCN):c.115C>A (p.Pro39Thr)	FLCN (P39T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 241924	NM_144997.7(FLCN):c.42C>T (p.His14=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 322081	NM_144997.7(FLCN):c.-176G>A	FLCN	Single nucleotide variant (5 prime UTR variant)	Birt-Hogg-Dube syndrome +2 more	GBenign/Likely benign
Select item 322084	NM_144997.7(FLCN):c.-431C>T	FLCN	Single nucleotide variant (5 prime UTR variant)	Familial spontaneous pneumothorax +3 more	GConflicting classifications of pathogenicity
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	TOP3A, TRIM16L +44 more	Copy number loss	not provided	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35