ClinVar for MedGen (Select 91070) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242952	NC_000017.10:g.(?_17116969)_(17129656_?)dup	FLCN	Duplication	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3242951	NC_000017.10:g.(?_17127216)_(17140502_?)dup	FLCN	Duplication	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3242950	NC_000017.10:g.(?_17136102)_(17140502_?)dup	FLCN	Duplication	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3242949	NC_000017.10:g.(?_17140226)_(17140502_?)dup	FLCN	Duplication	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3242948	NC_000017.10:g.(?_17129480)_(17136215_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3242947	NC_000017.10:g.(?_17118299)_(17119986_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3242946	NC_000017.10:g.(?_17129480)_(17140502_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3242945	NC_000017.10:g.(?_17135108)_(17135196_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3242944	NC_000017.10:g.(?_17116969)_(17117190_?)del	FLCN	Deletion	Birt-Hogg-Dube syndrome	GPathogenic
Select item 3021636	NM_144997.7(FLCN):c.781C>T (p.Leu261Phe)	FLCN (L279F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3017460	NM_144997.7(FLCN):c.249+18C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 3017321	NM_144997.7(FLCN):c.1530G>A (p.Glu510=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3015980	NM_144997.7(FLCN):c.1295C>T (p.Ser432Phe)	FLCN (S432F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3010873	NM_144997.7(FLCN):c.1176+19T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3010640	NM_144997.7(FLCN):c.910G>A (p.Ala304Thr)	FLCN (A304T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3004139	NM_144997.7(FLCN):c.220C>A (p.Pro74Thr)	FLCN (P74T)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 3001443	NM_144997.7(FLCN):c.1638T>C (p.Asn546=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2999824	NM_144997.7(FLCN):c.1595_1603del (p.Thr532_Leu535delinsMet)	FLCN	Deletion (inframe_indel)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 2999675	NM_144997.7(FLCN):c.417C>G (p.Gly139=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2999668	NM_144997.7(FLCN):c.435T>C (p.Asp145=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2999369	NM_144997.7(FLCN):c.1538+16G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2993792	NM_144997.7(FLCN):c.1651A>C (p.Lys551Gln)	FLCN (K569Q +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2993373	NM_144997.7(FLCN):c.1434G>T (p.Val478=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2990748	NM_144997.7(FLCN):c.1321_1322del (p.Val441fs)	FLCN (V441fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2989604	NM_144997.7(FLCN):c.1063-18C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2985314	NM_144997.7(FLCN):c.1177-18T>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2975053	NM_144997.7(FLCN):c.1433-10T>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2972839	NM_144997.7(FLCN):c.1126T>C (p.Trp376Arg)	FLCN (W376R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2969388	NM_144997.7(FLCN):c.425T>A (p.Phe142Tyr)	FLCN (F142Y +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2965105	NM_144997.7(FLCN):c.779+13T>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2961589	NM_144997.7(FLCN):c.1062+14G>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2959775	NM_144997.7(FLCN):c.1539-3dup	FLCN	Duplication (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2959226	NM_144997.7(FLCN):c.1245C>T (p.Cys415=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2956203	NM_144997.7(FLCN):c.992C>G (p.Ser331Cys)	FLCN (S331C +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2917375	NM_144997.7(FLCN):c.1539-14T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2915148	NM_144997.7(FLCN):c.1682A>G (p.Tyr561Cys)	FLCN (Y561C +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2914651	NM_144997.7(FLCN):c.397-11T>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2913481	NM_144997.7(FLCN):c.780-14G>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2912833	NM_144997.7(FLCN):c.637T>A (p.Phe213Ile)	FLCN (F231I +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2912832	NM_144997.7(FLCN):c.951A>G (p.Thr317=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2911078	NM_144997.7(FLCN):c.896G>A (p.Trp299Ter)	FLCN (W299* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2910496	NM_144997.7(FLCN):c.1438C>T (p.Pro480Ser)	FLCN (P498S +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2910413	NM_144997.7(FLCN):c.31T>C (p.Cys11Arg)	FLCN (C11R)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2906655	NM_144997.7(FLCN):c.423C>G (p.Ile141Met)	FLCN (I159M +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2906580	NM_144997.7(FLCN):c.397-19G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2906018	NM_144997.7(FLCN):c.846C>G (p.Thr282=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2905787	NM_144997.7(FLCN):c.438G>A (p.Glu146=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2905593	NM_144997.7(FLCN):c.1589A>T (p.Glu530Val)	FLCN (E530V +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2903938	NM_144997.7(FLCN):c.93A>G (p.Gln31=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2903412	NM_144997.7(FLCN):c.1278C>A (p.Ile426=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2901371	NM_144997.7(FLCN):c.476A>G (p.Lys159Arg)	FLCN (K159R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2899796	NM_144997.7(FLCN):c.732G>A (p.Leu244=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2898977	NM_144997.7(FLCN):c.1618G>A (p.Gly540Ser)	FLCN (G540S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2898593	NM_144997.7(FLCN):c.779+14C>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2896183	NM_144997.7(FLCN):c.1627G>C (p.Glu543Gln)	FLCN (E543Q +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +1 more	GUncertain significance
Select item 2892204	NM_144997.7(FLCN):c.977C>A (p.Pro326Gln)	FLCN (P344Q +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2890970	NM_144997.7(FLCN):c.1177-12T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2888738	NM_144997.7(FLCN):c.1432+4G>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2888097	NM_144997.7(FLCN):c.334C>T (p.Pro112Ser)	FLCN (P112S)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2887087	NM_144997.7(FLCN):c.1083C>T (p.Phe361=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2885922	NM_144997.7(FLCN):c.871+17G>A	FLCN	Single nucleotide variant (synonymous variant +1 more)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2879915	NM_144997.7(FLCN):c.1220G>T (p.Ser407Ile)	FLCN (S407I +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2879645	NM_144997.7(FLCN):c.982G>A (p.Glu328Lys)	FLCN (E346K +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2878769	NM_144997.7(FLCN):c.674C>T (p.Ala225Val)	FLCN (A225V +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2877234	NM_144997.7(FLCN):c.780-17G>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2876764	NM_144997.7(FLCN):c.612G>T (p.Ala204=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2874015	NM_144997.7(FLCN):c.948T>A (p.Ser316Arg)	FLCN (S316R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2867770	NM_144997.7(FLCN):c.1128G>C (p.Trp376Cys)	FLCN (W376C +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2865771	NM_144997.7(FLCN):c.1300+8C>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2864035	NM_144997.7(FLCN):c.1606C>T (p.Leu536=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2861915	NM_144997.7(FLCN):c.460C>G (p.His154Asp)	FLCN (H154D +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2857534	NM_144997.7(FLCN):c.862A>T (p.Lys288Ter)	FLCN (K288* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2855449	NM_144997.7(FLCN):c.578del (p.Val193fs)	FLCN (V193fs +1 more)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2852087	NM_144997.7(FLCN):c.1176G>A (p.Arg392=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely pathogenic
Select item 2850588	NM_144997.7(FLCN):c.265G>C (p.Ala89Pro)	FLCN (A89P)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2850429	NM_144997.7(FLCN):c.1703C>G (p.Thr568Arg)	FLCN (T568R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2850002	NM_144997.7(FLCN):c.250-12T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2849382	NM_144997.7(FLCN):c.249+17T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2845755	NM_144997.7(FLCN):c.1063-244A>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2844342	NM_144997.7(FLCN):c.52A>T (p.Thr18Ser)	FLCN (T18S)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2843496	NM_144997.7(FLCN):c.1275G>T (p.Gln425His)	FLCN (Q425H +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2843388	NM_144997.7(FLCN):c.540C>A (p.Ile180=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2842771	NM_144997.7(FLCN):c.209A>T (p.Glu70Val)	FLCN (E70V)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2842007	NM_144997.7(FLCN):c.1535T>C (p.Met512Thr)	FLCN (M530T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2841462	NM_144997.7(FLCN):c.239A>G (p.Asp80Gly)	FLCN (D80G)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2841165	NM_144997.7(FLCN):c.1432+17A>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2840668	NM_144997.7(FLCN):c.779+15T>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2840190	NM_144997.7(FLCN):c.266C>G (p.Ala89Gly)	FLCN (A89G)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2840186	NM_144997.7(FLCN):c.107_108dup (p.Asp37fs)	FLCN (D37fs)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 2839932	NM_144997.7(FLCN):c.1607T>C (p.Leu536Pro)	FLCN (L536P +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2839804	NM_144997.7(FLCN):c.446G>C (p.Gly149Ala)	FLCN (G149A +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2839343	NM_144997.7(FLCN):c.1223A>C (p.Gln408Pro)	FLCN (Q408P +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2837719	NM_144997.7(FLCN):c.397-11T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2837713	NM_144997.7(FLCN):c.1483C>T (p.Leu495=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign
Select item 2836886	NM_144997.7(FLCN):c.356G>T (p.Ser119Ile)	FLCN (S119I)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2833396	NM_144997.7(FLCN):c.1432+3G>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2832392	NM_144997.7(FLCN):c.1463C>G (p.Ala488Gly)	FLCN (A488G +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2830381	NM_144997.7(FLCN):c.1656C>A (p.Phe552Leu)	FLCN (F552L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome	GUncertain significance
Select item 2829775	NM_144997.7(FLCN):c.208G>C (p.Glu70Gln)	FLCN (E70Q)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 2829565	NM_144997.7(FLCN):c.484C>T (p.Leu162=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome	GLikely benign

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