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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)	Autoinflammatory syndrome +3 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 provided +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)	Familial Mediterranean fever +5 more	GPathogenic/Likely pathogenic
Select item 495753	NM_000243.3(MEFV):c.2271C>T (p.Ser757=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +4 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)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2540	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV (V726A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GPathogenic/Likely pathogenic
Select item 1231478	NM_000243.3(MEFV):c.2166G>A (p.Val722=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 more	GBenign/Likely benign
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 36508	NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 97490	NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)	LOC126862264, MEFV (K695N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +9 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)	Familial Mediterranean fever, autosomal dominant +3 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)	Familial Mediterranean fever +24 more	GPathogenic/Likely pathogenic
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
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 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GPathogenic
Select item 811766	NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)	LOC126862264, MEFV (I666F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2553	NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 97467	NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	LOC126862264, MEFV (G632S)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 319108	NM_000243.3(MEFV):c.1803T>A (p.Ile601=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1330658	NM_000243.3(MEFV):c.1792+52C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650419	NM_000243.3(MEFV):c.1782G>A (p.Gln594=)	LOC126862264, MEFV (G442S)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 138206	NM_000243.3(MEFV):c.1764= (p.Pro588=)	LOC126862264, MEFV	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 97457	NM_000243.3(MEFV):c.1760-28T>A	LOC126862264, MEFV (F425Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 439880	NM_000243.3(MEFV):c.1760-30T>A	LOC126862264, MEFV (D424E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 993671	NM_000243.3(MEFV):c.1760-97G>A	LOC126862264, MEFV (G402E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GBenign/Likely benign
Select item 439888	NM_000243.3(MEFV):c.1759+11C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Acute febrile neutrophilic dermatosis +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 provided +5 more	GBenign/Likely benign
Select item 811693	NM_000243.3(MEFV):c.1611-33G>A	MEFV	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 439879	NM_000243.3(MEFV):c.1610+96C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 439881	NM_000243.3(MEFV):c.1610+21G>A	MEFV	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 439886	NM_000243.3(MEFV):c.1610+8G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 2921243	NM_000243.3(MEFV):c.1588-3T>A	MEFV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2921135	NM_000243.3(MEFV):c.1588-12T>A	MEFV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439878	NM_000243.3(MEFV):c.1588-69G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 97892	NM_000243.3(MEFV):c.1587+33C>G	MEFV	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445588	NM_000243.3(MEFV):c.1587+18C>T	MEFV	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 495751	NM_000243.3(MEFV):c.1587+7G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 2921087	NM_000243.3(MEFV):c.1536G>A (p.Leu512=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920814	NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr)	MEFV (A300T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 860331	NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	MEFV (L508V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2428595	NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr)	MEFV (A296T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36502	NM_000243.3(MEFV):c.1518C>T (p.Ile506=)	MEFV	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 36501	NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 97446	NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	MEFV	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 439885	NM_000243.3(MEFV):c.1461G>T (p.Val487=)	MEFV	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 439882	NM_000243.3(MEFV):c.1458C>T (p.Asp486=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 2545	NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	MEFV (F479L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 255615	NM_000243.3(MEFV):c.1428A>G (p.Gln476=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 36500	NM_000243.3(MEFV):c.1422G>A (p.Glu474=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign
Select item 2920930	NM_000243.3(MEFV):c.1417C>T (p.Leu473=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 234362	NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)	MEFV (R461Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 97441	NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	MEFV (A457V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 993989	NM_000243.3(MEFV):c.1356+44A>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign
Select item 439884	NM_000243.3(MEFV):c.1356+31G>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 36499	NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	MEFV (Q440E +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +6 more	GConflicting classifications of pathogenicity
Select item 97438	NM_000243.3(MEFV):c.1261-11T>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 97439	NM_000243.3(MEFV):c.1261-28A>G	MEFV	Single nucleotide variant (intron variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 995607	NM_000243.3(MEFV):c.1260+17T>C	MEFV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36498	NM_000243.3(MEFV):c.1260+10C>T	MEFV	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 994295	NM_000243.3(MEFV):c.1234A>G (p.Ile412Val)	MEFV (I201V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552	NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	MEFV (R197Q)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 450568	NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	MEFV (D391N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 2551	NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	MEFV (P158S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 527808	NM_000243.3(MEFV):c.1092G>T (p.Pro364=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 527806	NM_000243.3(MEFV):c.1092G>A (p.Pro364=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2428534	NM_000243.3(MEFV):c.1089C>A (p.Ser363Arg)	MEFV (S152R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 97428	NM_000243.3(MEFV):c.1043G>A (p.Arg348His)	MEFV (R348H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36497	NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)	MEFV (S339F +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +4 more	GUncertain significance
Select item 97557	NM_000243.3(MEFV):c.986G>A (p.Arg329His)	MEFV (R329H +1 more)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 705394	NM_000243.3(MEFV):c.948C>T (p.His316=)	MEFV	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36515	NM_000243.3(MEFV):c.942C>T (p.Arg314=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign
Select item 2921220	NM_000243.3(MEFV):c.928G>A (p.Ala310Thr)	MEFV (A99T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 97554	NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	MEFV (T309M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36513	NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	MEFV (G304R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 2544	NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	MEFV (T267I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 439887	NM_000243.3(MEFV):c.786T>C (p.Thr262=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 97545	NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	MEFV (I259V)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 439883	NM_000243.3(MEFV):c.758C>A (p.Ala253Glu)	MEFV (A253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 811275	NM_000243.3(MEFV):c.641A>C (p.Gln214Pro)	MEFV (Q214P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 36512	NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)	MEFV (R202Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 2921175	NM_000243.3(MEFV):c.590G>A (p.Gly197Asp)	MEFV (G197D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 97532	NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)	MEFV (G196W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 995595	NM_000243.3(MEFV):c.585G>C (p.Glu195Asp)	MEFV (E195D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +1 more	GUncertain significance
Select item 282968	NM_000243.3(MEFV):c.585G>A (p.Glu195=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 938555	NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)	MEFV (R192G)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 319116	NM_000243.3(MEFV):c.564C>T (p.Pro188=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138207	NM_000243.3(MEFV):c.549G>A (p.Pro183=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 97528	NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)	MEFV (T177I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 495755	NM_000243.2(MEFV):c.[1437C>G;501G>C]	MEFV (E167D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GPathogenic
Select item 2543	NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	MEFV (E167D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 36511	NM_000243.3(MEFV):c.495C>A (p.Ala165=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign
Select item 811962	NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)	MEFV (K164Q)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity

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