"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MEFV"[gene - ClinVar

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Items: 86

	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 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 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 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 870679	NM_000243.3(MEFV):c.2205A>G (p.Thr735=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 740298	NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)	LOC126862264, MEFV (R717C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 97491	NM_000243.3(MEFV):c.2103G>A (p.Ala701=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +4 more	GBenign/Likely benign
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +9 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 916426	NM_000243.3(MEFV):c.2066G>C (p.Trp689Ser)	LOC126862264, MEFV (W689S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1701272	NM_000243.3(MEFV):c.1900C>T (p.Gln634Ter)	LOC126862264, MEFV (Q634*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2498647	NM_000243.3(MEFV):c.1876T>A (p.Trp626Arg)	LOC126862264, MEFV (W626R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1781325	NM_000243.3(MEFV):c.1850T>G (p.Leu617Arg)	LOC126862264, MEFV (L617R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 527802	NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)	LOC126862264, MEFV (Q594* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 493169	NM_000243.3(MEFV):c.1779T>A (p.Ala593=)	LOC126862264, MEFV (S441T)	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +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 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 624074	NM_000243.3(MEFV):c.1760-8C>T	LOC126862264, MEFV (L432F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1675609	NM_000243.3(MEFV):c.1760-123A>G	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067554	NM_000243.3(MEFV):c.1588G>A (p.Asp530Asn)	MEFV (D319N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1298649	NM_000243.3(MEFV):c.1536G>C (p.Leu512=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2557	NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	MEFV (H478Y +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1701273	NM_000243.3(MEFV):c.1420_1422delinsAAA (p.Glu474Lys)	MEFV (E263K +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 97441	NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	MEFV (A457V +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +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 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 2646103	NM_000243.3(MEFV):c.1340A>T (p.Lys447Met)	MEFV (K236M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 97435	NM_000243.3(MEFV):c.1245C>T (p.Val415=)	MEFV	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1176665	NM_000243.3(MEFV):c.1243G>C (p.Val415Leu)	MEFV (V204L +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)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1675610	NM_000243.3(MEFV):c.1218C>T (p.Gly406=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319114	NM_000243.3(MEFV):c.1173T>C (p.Asp391=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +2 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 1335201	NM_000243.3(MEFV):c.1130G>A (p.Arg377His)	MEFV (R166H +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +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)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 527808	NM_000243.3(MEFV):c.1092G>T (p.Pro364=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 527806	NM_000243.3(MEFV):c.1092G>A (p.Pro364=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 97428	NM_000243.3(MEFV):c.1043G>A (p.Arg348His)	MEFV (R348H +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 425092	NM_000243.3(MEFV):c.1035A>T (p.Ser345=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1800877	NM_000243.3(MEFV):c.1006G>A (p.Glu336Lys)	MEFV (E125K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870680	NM_000243.3(MEFV):c.992C>T (p.Ser331Phe)	MEFV (S331F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 97557	NM_000243.3(MEFV):c.986G>A (p.Arg329His)	MEFV (R329H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +13 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)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 916427	NM_000243.3(MEFV):c.841C>T (p.Pro281Ser)	MEFV (P281S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870681	NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)	MEFV (N270D)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +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)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 97544	NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)	MEFV (N256fs)	Duplication (frameshift variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97541	NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	MEFV (S242R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694783	NM_000243.3(MEFV):c.693G>T (p.Val231=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 97537	NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	MEFV (E230K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GConflicting classifications of pathogenicity
Select item 97535	NM_000243.3(MEFV):c.663G>C (p.Pro221=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	MEFV-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 807965	NM_000243.3(MEFV):c.578C>T (p.Ala193Val)	MEFV (A193V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319116	NM_000243.3(MEFV):c.564C>T (p.Pro188=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97529	NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)	MEFV (S179I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +1 more	GUncertain significance
Select item 2543	NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	MEFV (E167D)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 132872	NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)	MEFV (R155T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 234355	NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	MEFV (S154P)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 97524	NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)	MEFV (R151S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2554	NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	MEFV (E148V)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2542	NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	MEFV	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 97521	NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])	MEFV	Microsatellite (inframe_insertion +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 97519	NM_000243.3(MEFV):c.372C>T (p.Pro124=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 97515	NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	MEFV (S108R)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +6 more	GConflicting classifications of pathogenicity
Select item 1701274	NM_000243.3(MEFV):c.253_254delinsAT (p.Glu85Met)	MEFV (E85M)	Indel (missense variant)	not provided	GUncertain significance
Select item 860477	NM_000243.3(MEFV):c.224G>A (p.Arg75Gln)	MEFV (R75Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012389	NM_000243.3(MEFV):c.199G>A (p.Val67Met)	MEFV (V67M)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 97474	NM_000243.3(MEFV):c.195C>T (p.Tyr65=)	MEFV	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 807966	NM_000243.3(MEFV):c.128G>A (p.Ser43Asn)	MEFV (S43N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1147282	NM_000243.3(MEFV):c.120C>T (p.Ile40=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 36516	NM_000243.3(MEFV):c.97G>T (p.Val33Leu)	MEFV (V33L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 675625	NM_000243.2(MEFV):c.-330G>A	MEFV	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 808169	GRCh37/hg19 16p13.3(chr16:3293141-3306587)x3	MEFV	Copy number gain	not provided	GUncertain significance
Select item 624543	GRCh37/hg19 16p13.3(chr16:3219476-3378736)x3	MEFV, OR1F1 +4 more	Copy number gain	not provided	GLikely benign
Select item 624490	GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3	IL32, MEFV +6 more	Copy number gain	not provided	GLikely benign

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Items: 86