"Natera, Inc."[submitter] AND "MEFV"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445530	NM_000243.3(MEFV):c.*9C>T	MEFV	Single nucleotide variant (3 prime UTR variant)	MEFV-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 97511	NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	MEFV (P780T)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 97510	NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 841823	NM_000243.3(MEFV):c.2336G>T (p.Gly779Val)	MEFV (G779V)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 458001	NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs)	MEFV (G777fs)	Deletion (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 97509	NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	MEFV (I772V)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1018295	NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)	MEFV (T771fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 378133	NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2549	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV (R761H)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GPathogenic/Likely pathogenic
Select item 97507	NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	MEFV (I755V)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97505	NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	MEFV (S749C)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 999011	NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro)	MEFV (A744P)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +7 more	GConflicting classifications of pathogenicity
Select item 97503	NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	MEFV (F743L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 234449	NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu)	MEFV (F743L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2540	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV (V726A)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GPathogenic/Likely pathogenic
Select item 97500	NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	LOC126862264, MEFV (V722M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 458000	NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 97499	NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	LOC126862264, MEFV (I720M)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 803177	NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)	LOC126862264, MEFV (R717L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 234366	NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)	LOC126862264, MEFV (K716E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 649340	NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	LOC126862264, MEFV (R708H)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97496	NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	LOC126862264, MEFV (R708C)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 36508	NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 970490	NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	LOC126862264, MEFV (P706L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 845727	NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)	LOC126862264, MEFV (V704G)	Single nucleotide variant (3 prime UTR variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 97493	NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 2556	NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)	LOC126862264, MEFV (M694del)	Microsatellite (inframe_deletion +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 2539	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +24 more	GPathogenic/Likely pathogenic
Select item 859245	NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)	LOC126862264, MEFV (W689R)	Single nucleotide variant (3 prime UTR variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 990366	NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp)	LOC126862264, MEFV (E685D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 97482	NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 942144	NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu)	LOC126862264, MEFV (S683L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 577934	NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	LOC126862264, MEFV (L682fs)	Microsatellite (frameshift variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GPathogenic
Select item 97479	NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	LOC126862264, MEFV (G678E)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1035137	NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg)	LOC126862264, MEFV (G678R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 811766	NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)	LOC126862264, MEFV (I666F)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 945605	NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)	LOC126862264, MEFV (K662E)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1023444	NM_000243.3(MEFV):c.1969G>A (p.Val657Met)	LOC126862264, MEFV (V657M)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1021492	NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu)	LOC126862264, MEFV (W655L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 289866	NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	LOC126862264, MEFV (R653C)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97471	NM_000243.3(MEFV):c.1938G>A (p.Pro646=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1117805	NM_000243.3(MEFV):c.1911C>T (p.Asp637=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 793936	NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 457998	NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	LOC126862264, MEFV (P633L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 990367	NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr)	LOC126862264, MEFV (P633T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 803182	NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)	LOC126862264, MEFV (P630L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97466	NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 97465	NM_000243.3(MEFV):c.1818C>T (p.Thr606=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 319108	NM_000243.3(MEFV):c.1803T>A (p.Ile601=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 97464	NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	LOC126862264, MEFV (N599D)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 936102	NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)	LOC126862264, MEFV (C445Y +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 857323	NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr)	LOC126862264, MEFV (A595T +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 803185	NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)	LOC126862264, MEFV (W439G +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 36506	NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +6 more	GConflicting classifications of pathogenicity
Select item 1147321	NM_000243.3(MEFV):c.1764G>T (p.Pro588=)	LOC126862264, MEFV (G436*)	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 36505	NM_000243.3(MEFV):c.1764G>A (p.Pro588=)	LOC126862264, MEFV (G436R)	Single nucleotide variant (no sequence alteration +2 more)	Familial Mediterranean fever +3 more	GBenign
Select item 97458	NM_000243.3(MEFV):c.1760-4G>A	LOC126862264, MEFV (R433H)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36504	NM_000243.3(MEFV):c.1759+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 632891	NM_000243.3(MEFV):c.1759+7C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 884985	NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 97456	NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	LOC126862264, MEFV (M582L +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 319109	NM_000243.3(MEFV):c.1736G>A (p.Arg579His)	LOC126862264, MEFV (R579H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GUncertain significance
Select item 641743	NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	LOC126862264, MEFV (R579C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 864685	NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)	LOC126862264, MEFV (H561Y +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 633304	NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	MEFV (T548N +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 495752	NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)	MEFV (V541A +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 704857	NM_000243.3(MEFV):c.1610+10G>T	MEFV	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 97892	NM_000243.3(MEFV):c.1587+33C>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 445588	NM_000243.3(MEFV):c.1587+18C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign/Likely benign
Select item 1059266	NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)	MEFV (E309V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 646921	NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	MEFV (A511V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 36503	NM_000243.3(MEFV):c.1530T>C (p.Asp510=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +5 more	GBenign
Select item 955767	NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	MEFV (D299N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 319110	NM_000243.3(MEFV):c.1527C>T (p.Leu509=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GConflicting classifications of pathogenicity
Select item 860331	NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	MEFV (L508V +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 36502	NM_000243.3(MEFV):c.1518C>T (p.Ile506=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 319112	NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)	MEFV (D505Y +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 457996	NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	MEFV (S503C +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 527800	NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)	MEFV (V502I +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 36501	NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 918136	NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	MEFV (R290C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97446	NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 97445	NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	MEFV (V487M +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 565686	NM_000243.3(MEFV):c.1455G>A (p.Glu485=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1037890	NM_000243.3(MEFV):c.1450C>A (p.Leu484Met)	MEFV (L484M +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2545	NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	MEFV (F479L +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 255615	NM_000243.3(MEFV):c.1428A>G (p.Gln476=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GBenign
Select item 36500	NM_000243.3(MEFV):c.1422G>A (p.Glu474=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 319113	NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)	MEFV (V469A +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 990368	NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys)	MEFV (E256K +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 632890	NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)	MEFV (E456D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 964707	NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	MEFV (F240C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 761100	NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 279849	NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	MEFV (K447N +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 234502	NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	MEFV (E446A +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 945593	NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)	MEFV (S231T +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity

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