"ITMI"[submitter] AND "FLCN"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 134430	NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)	FLCN (P428L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 134431	NM_144997.7(FLCN):c.1198G>A (p.Val400Ile)	FLCN (V400I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 41863	NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)	FLCN (R320Q +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 134429	NM_144997.7(FLCN):c.871+121C>T	FLCN (T331M)	Single nucleotide variant (missense variant +1 more)	FLCN-related disorder	GLikely benign
Select item 134428	NM_144997.7(FLCN):c.871+100C>T	FLCN (A324V)	Single nucleotide variant (missense variant +1 more)	FLCN-related disorder	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 41861	NM_144997.7(FLCN):c.871+36G>A	FLCN (G303R)	Single nucleotide variant (missense variant +1 more)	Birt-Hogg-Dube syndrome +2 more	GBenign
Select item 41860	NM_144997.7(FLCN):c.871+16T>A	FLCN (L296Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 134427	NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)	FLCN (R239C +1 more)	Single nucleotide variant (missense variant)	FLCN-related disorder +4 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)	Hereditary cancer-predisposing syndrome +5 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 41858	NM_144997.7(FLCN):c.396+59T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GBenign
Select item 133349	NM_144997.7(FLCN):c.396+55G>T	FLCN	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 41857	NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)	FLCN (A90S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134422	NM_144997.7(FLCN):c.202A>G (p.Ser68Gly)	FLCN (S68G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 134423	NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)	FLCN (A45G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 134424	NM_144997.7(FLCN):c.95G>A (p.Gly32Glu)	FLCN (G32E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance