"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694330	NM_000243.3(MEFV):c.*9C>G	MEFV	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome	GUncertain significance
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 97511	NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	MEFV (P780T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 1694335	NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr)	MEFV (C773Y)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 378133	NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +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 1694334	NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr)	MEFV (A744T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
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 458000	NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 740298	NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)	LOC126862264, MEFV (R717C)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 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)	Familial Mediterranean fever +5 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 +5 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)	not specified +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)	not provided +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)	Recurrent fever +24 more	GPathogenic/Likely pathogenic
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	Familial Mediterranean fever, autosomal dominant +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)	Inborn genetic diseases +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 97473	NM_000243.3(MEFV):c.1956C>A (p.Arg652=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 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)	not provided +4 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 +3 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)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
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 36504	NM_000243.3(MEFV):c.1759+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +5 more	GBenign/Likely benign
Select item 632891	NM_000243.3(MEFV):c.1759+7C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not specified +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)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 641743	NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	LOC126862264, MEFV (R579C +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36503	NM_000243.3(MEFV):c.1530T>C (p.Asp510=)	MEFV	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
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 457996	NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	MEFV (S503C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 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 97448	NM_000243.3(MEFV):c.1502G>A (p.Arg501His)	MEFV (R501H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 97446	NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 378132	NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)	MEFV (V487L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1694333	NM_000243.3(MEFV):c.1429G>A (p.Glu477Lys)	MEFV (E266K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 36500	NM_000243.3(MEFV):c.1422G>A (p.Glu474=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +5 more	GBenign
Select item 319113	NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)	MEFV (V469A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 234502	NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	MEFV (E446A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1694332	NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)	MEFV (R230* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GLikely pathogenic
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 1633438	NM_000243.3(MEFV):c.1261-10G>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
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 97435	NM_000243.3(MEFV):c.1245C>T (p.Val415=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 457995	NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	MEFV (R408L +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 2552	NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	MEFV (R197Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 457994	NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)	MEFV (R408W +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 1694331	NM_000243.3(MEFV):c.1151T>A (p.Leu384Gln)	MEFV (L173Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 2551	NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	MEFV (P158S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 527808	NM_000243.3(MEFV):c.1092G>T (p.Pro364=)	MEFV	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97432	NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)	MEFV (P364L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 495749	NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	MEFV (R354Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 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)	Familial Mediterranean fever +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)	not specified +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)	Familial Mediterranean fever +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)	not specified +5 more	GBenign
Select item 97554	NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	MEFV (T309M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1694348	NM_000243.3(MEFV):c.920C>G (p.Pro307Arg)	MEFV (P307R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694347	NM_000243.3(MEFV):c.911-8G>A	MEFV	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 36513	NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	MEFV (G304R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 97550	NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	MEFV (A289V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GConflicting classifications of pathogenicity
Select item 1149439	NM_000243.3(MEFV):c.840G>A (p.Arg280=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 1036172	NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)	MEFV (R280K)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97547	NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)	MEFV (R278P)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 2544	NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	MEFV (T267I)	Single nucleotide variant (missense variant +1 more)	not specified +4 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)	Familial Mediterranean fever, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 97543	NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	MEFV (E251K)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97542	NM_000243.3(MEFV):c.726C>T (p.Ser242=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97537	NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	MEFV (E230K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1694346	NM_000243.3(MEFV):c.656dup (p.Ala220fs)	MEFV (A220fs)	Duplication (frameshift variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97534	NM_000243.3(MEFV):c.657C>T (p.Gly219=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 971473	NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)	MEFV (S208T)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1694345	NM_000243.3(MEFV):c.619G>T (p.Ala207Ser)	MEFV (A207S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
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 36512	NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)	MEFV (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 1694344	NM_000243.3(MEFV):c.586G>A (p.Gly196Arg)	MEFV (G196R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 97532	NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)	MEFV (G196W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 234358	NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)	MEFV (P183T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 97527	NM_000243.3(MEFV):c.524C>A (p.Pro175His)	MEFV (P175H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 2543	NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	MEFV (E167D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +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)	not specified +5 more	GBenign
Select item 2554	NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	MEFV (E148V)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +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)	Familial Mediterranean fever +7 more	GConflicting classifications of pathogenicity
Select item 36510	NM_000243.3(MEFV):c.414A>G (p.Gly138=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 1694343	NM_000243.3(MEFV):c.409G>A (p.Gly137Ser)	MEFV (G137S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694342	NM_000243.3(MEFV):c.397C>A (p.Arg133=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694341	NM_000243.3(MEFV):c.390C>T (p.Asn130=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694340	NM_000243.3(MEFV):c.380A>G (p.Asn127Ser)	MEFV (N127S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 97519	NM_000243.3(MEFV):c.372C>T (p.Pro124=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 1694339	NM_000243.3(MEFV):c.368A>T (p.His123Leu)	MEFV (H123L)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 96982	NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)	MEFV (P115T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97517	NM_000243.3(MEFV):c.333G>A (p.Gly111=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +6 more	GBenign/Likely benign

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