ClinVar for MedGen (Select 341987) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891654	NM_000243.3(MEFV):c.461C>G (p.Ser154Trp)	MEFV (S154W)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GUncertain significance
Select item 3580436	NM_000243.3(MEFV):c.17G>A (p.Ser6Asn)	MEFV (S6N)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580435	NM_000243.3(MEFV):c.56A>T (p.Tyr19Phe)	MEFV (Y19F)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580434	NM_000243.3(MEFV):c.115A>G (p.Arg39Gly)	MEFV (R39G)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580433	NM_000243.3(MEFV):c.130C>A (p.Gln44Lys)	MEFV (Q44K)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580432	NM_000243.3(MEFV):c.166C>G (p.Leu56Val)	MEFV (L56V)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580430	NM_000243.3(MEFV):c.229A>G (p.Ile77Val)	MEFV (I77V)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580429	NM_000243.3(MEFV):c.264G>C (p.Arg88Ser)	MEFV (R88S)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580428	NM_000243.3(MEFV):c.284C>G (p.Ser95Cys)	MEFV (S95C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580427	NM_000243.3(MEFV):c.415G>T (p.Ala139Ser)	MEFV (A139S)	Single nucleotide variant (intron variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580426	NM_000243.3(MEFV):c.451A>G (p.Arg151Gly)	MEFV (R151G)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580425	NM_000243.3(MEFV):c.503G>T (p.Gly168Val)	MEFV (G168V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580424	NM_000243.3(MEFV):c.508G>A (p.Asp170Asn)	MEFV (D170N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580423	NM_000243.3(MEFV):c.516G>C (p.Gln172His)	MEFV (Q172H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580422	NM_000243.3(MEFV):c.544del (p.Leu182fs)	MEFV (L182fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580421	NM_000243.3(MEFV):c.565G>C (p.Gly189Arg)	MEFV (G189R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580420	NM_000243.3(MEFV):c.650C>T (p.Ala217Val)	MEFV (A217V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580419	NM_000243.3(MEFV):c.658G>C (p.Ala220Pro)	MEFV (A220P)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580418	NM_000243.3(MEFV):c.659C>T (p.Ala220Val)	MEFV (A220V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580417	NM_000243.3(MEFV):c.674A>G (p.Glu225Gly)	MEFV (E225G)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580416	NM_000243.3(MEFV):c.751G>C (p.Glu251Gln)	MEFV (E251Q)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580415	NM_000243.3(MEFV):c.764C>T (p.Ala255Val)	MEFV (A255V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580414	NM_000243.3(MEFV):c.788T>G (p.Leu263Arg)	MEFV (L263R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580413	NM_000243.3(MEFV):c.824C>T (p.Thr275Ile)	MEFV (T275I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580412	NM_000243.3(MEFV):c.835G>A (p.Ala279Thr)	MEFV (A279T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580411	NM_000243.3(MEFV):c.871C>G (p.Leu291Val)	MEFV (L291V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580410	NM_000243.3(MEFV):c.915G>T (p.Arg305Ser)	MEFV (R305S +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580409	NM_000243.3(MEFV):c.922G>A (p.Asp308Asn)	MEFV (D97N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580408	NM_000243.3(MEFV):c.974G>A (p.Gly325Asp)	MEFV (G114D +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580407	NM_000243.3(MEFV):c.1088G>A (p.Ser363Asn)	MEFV (S363N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580406	NM_000243.3(MEFV):c.1173T>G (p.Asp391Glu)	MEFV (D180E +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580405	NM_000243.3(MEFV):c.1186C>G (p.Leu396Val)	MEFV (L185V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580404	NM_000243.3(MEFV):c.1190T>C (p.Ile397Thr)	MEFV (I186T +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580403	NM_000243.3(MEFV):c.1246G>A (p.Ala416Thr)	MEFV (A205T +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580402	NM_000243.3(MEFV):c.1246G>T (p.Ala416Ser)	MEFV (A205S +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580401	NM_000243.3(MEFV):c.1296G>T (p.Lys432Asn)	MEFV (K221N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580400	NM_000243.3(MEFV):c.1315G>A (p.Glu439Lys)	MEFV (E228K +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580399	NM_000243.3(MEFV):c.1322G>A (p.Arg441Gln)	MEFV (R441Q +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +3 more	GUncertain significance
Select item 3580398	NM_000243.3(MEFV):c.1439T>G (p.Phe480Cys)	MEFV (F480C +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580397	NM_000243.3(MEFV):c.1468A>G (p.Met490Val)	MEFV (M490V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580395	NM_000243.3(MEFV):c.1579C>G (p.Leu527Val)	MEFV (L316V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580394	NM_000243.3(MEFV):c.1595G>A (p.Gly532Glu)	MEFV (G532E +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580393	NM_000243.3(MEFV):c.1643C>T (p.Thr548Ile)	MEFV (T337I +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580392	NM_000243.3(MEFV):c.1655A>T (p.Glu552Val)	MEFV (E341V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580391	NM_000243.3(MEFV):c.1726+2T>C	LOC126862264, MEFV	Single nucleotide variant (splice donor variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580390	NM_000243.3(MEFV):c.1738dup (p.Ser580fs)	LOC126862264, MEFV (S369fs +1 more)	Duplication (frameshift variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580389	NM_000243.3(MEFV):c.1747G>A (p.Glu583Lys)	LOC126862264, MEFV (E583K +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580388	NM_000243.3(MEFV):c.1839_1841del (p.Ser614del)	LOC126862264, MEFV (S614del)	Deletion (3 prime UTR variant)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580387	NM_000243.3(MEFV):c.1966_1969dup (p.Val657fs)	LOC126862264, MEFV (V657fs)	Duplication (frameshift variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580386	NM_000243.3(MEFV):c.1979G>C (p.Gly660Ala)	LOC126862264, MEFV (G660A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580385	NM_000243.3(MEFV):c.2191T>G (p.Phe731Val)	MEFV (F731V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580384	NM_000243.3(MEFV):c.2210G>A (p.Arg737Lys)	MEFV (R737K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580383	NM_000243.3(MEFV):c.2213C>A (p.Ser738Tyr)	MEFV (S738Y)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580382	NM_000243.3(MEFV):c.2222A>G (p.Tyr741Cys)	MEFV (Y741C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580381	NM_000243.3(MEFV):c.2240C>G (p.Ser747Cys)	MEFV (S747C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580380	NM_000243.3(MEFV):c.2248G>C (p.Gly750Arg)	MEFV (G750R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580379	NM_000243.3(MEFV):c.2281C>T (p.Arg761Cys)	MEFV (R761C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580378	NM_000243.3(MEFV):c.2298C>A (p.Asn766Lys)	MEFV (N766K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3580377	NM_000243.3(MEFV):c.2209_2305dup (p.Pro769delinsGlnIleProHisLeuTyrIleArgGlnLeuLeuPheLeuTrpAlaProSerThrTyrLeuGlnProTrpAspThrTer)	MEFV	Duplication (nonsense +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GUncertain significance
Select item 3394737	NM_000243.3(MEFV):c.1904G>T (p.Arg635Ile)	LOC126862264, MEFV (R635I)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GUncertain significance
Select item 3373563	NM_000243.3(MEFV):c.2323G>A (p.Val775Met)	MEFV (V775M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 3364837	NM_000243.3(MEFV):c.1104C>A (p.Ser368Arg)	MEFV (S157R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2917050	NM_000243.3(MEFV):c.1004C>A (p.Pro335His)	MEFV (P335H +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GUncertain significance
Select item 2676501	NM_000243.3(MEFV):c.1588-2A>G	MEFV	Single nucleotide variant (splice acceptor variant)	Familial Mediterranean fever, autosomal dominant	GUncertain significance
Select item 2311078	NM_000243.3(MEFV):c.323G>C (p.Ser108Thr)	MEFV (S108T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2188961	NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)	MEFV (E128K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 2177038	NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)	MEFV (W336R +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 2169785	NM_000243.3(MEFV):c.343C>T (p.Pro115Ser)	MEFV (P115S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1984587	NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)	MEFV (D290N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1952434	NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)	MEFV (G777R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1935964	NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)	MEFV (P254S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1931206	NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)	MEFV (S109F)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GUncertain significance
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1717583	NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)	MEFV (T55A)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1696111	NM_000243.3(MEFV):c.[329T>C;442G>C]	MEFV (L110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1694338	NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)	MEFV (G100R)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1674612	NM_000243.3(MEFV):c.933G>A (p.Ala311=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1667029	NM_000243.3(MEFV):c.180C>T (p.Tyr60=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1637905	NM_000243.3(MEFV):c.1485G>A (p.Arg495=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 1596874	NM_000243.3(MEFV):c.426G>C (p.Leu142=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1518067	NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)	MEFV (E84Q)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1482223	NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)	MEFV (L203P)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1478684	NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)	LOC126862264, MEFV (M693T)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1467370	NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)	LOC126862264, MEFV (Q351R +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1420553	NM_000243.3(MEFV):c.410del (p.Gly137fs)	MEFV (G137fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1410643	NM_000243.3(MEFV):c.434G>C (p.Ser145Thr)	MEFV (S145T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1392560	NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)	MEFV (K23R)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1385298	NM_000243.3(MEFV):c.973G>C (p.Gly325Arg)	MEFV (G114R +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1385081	NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)	MEFV (R329C +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1378043	NM_000243.3(MEFV):c.857G>C (p.Gly286Ala)	MEFV (G286A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1335201	NM_000243.3(MEFV):c.1130G>A (p.Arg377His)	MEFV (R166H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1325704	NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	MEFV (G763R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1321575	NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)	MEFV (P131S +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 1320936	NM_000243.3(MEFV):c.2236T>C (p.Cys746Arg)	MEFV (C746R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1315983	NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)	MEFV (G219D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 1301316	NM_000243.3(MEFV):c.2078T>A (p.Met693Lys)	LOC126862264, MEFV (M693K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GUncertain significance
Select item 1285085	NM_000243.3(MEFV):c.2296A>C (p.Asn766His)	MEFV (N766H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1209628	NM_000243.3(MEFV):c.833G>A (p.Arg278Gln)	MEFV (R278Q)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 1189569	NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)	MEFV (C144Y)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1179060	NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	MEFV (Q293* +1 more)	Single nucleotide variant (nonsense)	Acute febrile neutrophilic dermatosis +2 more	GPathogenic

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