C1868193[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043559	NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	FLCN (R588L +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GConflicting classifications of pathogenicity
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 460603	NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	FLCN (R527Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 653093	NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg)	FLCN (K520R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1044847	NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)	FLCN (K534R +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GUncertain significance
Select item 3367	NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)	FLCN (Y463* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome 1 +4 more	GPathogenic
Select item 460591	NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	FLCN (Q458R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 647717	NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	FLCN (E455K +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 818884	NM_144997.7(FLCN):c.1315G>A (p.Val439Met)	FLCN (V457M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 3363	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN (H447fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 485595	NM_144997.7(FLCN):c.1285C>G (p.His429Asp)	FLCN (H429D +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +7 more	GUncertain significance
Select item 3364	NM_144997.7(FLCN):c.1285del (p.His429fs)	FLCN (H447fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 184619	NM_144997.7(FLCN):c.1283C>A (p.Pro428His)	FLCN (P428H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 96473	NM_144997.7(FLCN):c.1203dup (p.Ile402fs)	FLCN (I402fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 460585	NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	FLCN (G398A +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 485585	NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	FLCN (R362C +1 more)	Single nucleotide variant (missense variant)	FLCN-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 1055627	NM_144997.7(FLCN):c.991T>C (p.Ser331Pro)	FLCN (S331P +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +3 more	GUncertain significance
Select item 1709707	NM_144997.7(FLCN):c.871+132G>T	FLCN (E335*)	Single nucleotide variant (nonsense +1 more)	Birt-Hogg-Dube syndrome +2 more	GConflicting classifications of pathogenicity
Select item 225284	NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)	FLCN (P278L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 322066	NM_144997.7(FLCN):c.791C>T (p.Ala264Val)	FLCN (A264V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 161246	NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)	FLCN (W260* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 826983	NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	FLCN (T263K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 485602	NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)	FLCN (N236S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460625	NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	FLCN (Q212K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 460622	NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)	FLCN (G202S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460618	NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)	FLCN (F166L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 186785	NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	FLCN (F157del +1 more)	Microsatellite (inframe_deletion)	Birt-Hogg-Dube syndrome +7 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)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 96481	NM_144997.7(FLCN):c.250-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
Select item 415612	NM_144997.7(FLCN):c.205G>A (p.Val69Ile)	FLCN (V69I)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1519156	NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)	FLCN (S68R)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 187016	NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)	FLCN (E47Q)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 485613	NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	FLCN (A45V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 241932	NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)	FLCN (P28S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity

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Items: 34