ClinVar for MedGen (Select 341987) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
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)	Autoinflammatory syndrome +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)	Familial Mediterranean fever +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)	Acute febrile neutrophilic dermatosis +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 +2 more	GConflicting classifications of pathogenicity
Select item 1392560	NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)	MEFV (K23R)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1385081	NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)	MEFV (R329C +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 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 1325704	NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	MEFV (G763R)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +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)	not provided +3 more	GConflicting classifications of pathogenicity
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 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)	Familial Mediterranean fever +2 more	GPathogenic
Select item 1179055	NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)	MEFV (D322fs +1 more)	Microsatellite (frameshift variant)	Familial Mediterranean fever +2 more	GLikely pathogenic
Select item 1166545	NM_000243.3(MEFV):c.37C>G (p.Leu13Val)	MEFV (L13V)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GBenign
Select item 1157571	NM_000243.3(MEFV):c.1401G>A (p.Glu467=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1147221	NM_000243.3(MEFV):c.192G>A (p.Glu64=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 1146940	NM_000243.3(MEFV):c.1005C>T (p.Pro335=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1140278	NM_000243.3(MEFV):c.765A>G (p.Ala255=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1139651	NM_000243.3(MEFV):c.1677C>T (p.Leu559=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 1122743	NM_000243.3(MEFV):c.1533G>A (p.Ala511=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1064634	NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)	MEFV (P50L)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1062670	NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)	LOC126862264, MEFV (R653S)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1051961	NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)	MEFV (A90P)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1036920	NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)	MEFV (Q68*)	Indel (nonsense)	Familial Mediterranean fever +2 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 1018295	NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)	MEFV (T771fs)	Deletion (frameshift variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
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 1011684	NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)	MEFV (S159G)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 1009611	NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)	MEFV (S107A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 1006519	NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)	MEFV (K174E)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 994179	NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)	MEFV (Q68*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 993989	NM_000243.3(MEFV):c.1356+44A>G	MEFV	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 993772	NM_000243.3(MEFV):c.342G>A (p.Lys114=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 993671	NM_000243.3(MEFV):c.1760-97G>A	LOC126862264, MEFV (G402E)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign/Likely benign
Select item 992257	NM_000243.3(MEFV):c.1759+12G>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 987917	NM_000243.2:c.(?_911)_(1356_?)del	MEFV	Deletion	Familial Mediterranean fever +1 more	GLikely pathogenic
Select item 984473	NM_000243.3(MEFV):c.378G>T (p.Gly126=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +3 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 970490	NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	LOC126862264, MEFV (P706L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 966080	NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)	MEFV (S166L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 965372	NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)	MEFV	Duplication (inframe_insertion +1 more)	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)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 955767	NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	MEFV (D299N +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 953572	NM_000243.3(MEFV):c.566G>T (p.Gly189Val)	MEFV (G189V)	Single nucleotide variant (missense variant +1 more)	not specified +3 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)	Familial Mediterranean fever +2 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 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 888171	NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)	MEFV (P369T +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 888112	NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)	LOC126862264, MEFV (V690L)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +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)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 870681	NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)	MEFV (N270D)	Single nucleotide variant (missense variant +1 more)	not provided +3 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, autosomal dominant +2 more	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)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 859245	NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)	LOC126862264, MEFV (W689R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 859215	NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)	MEFV (Y135*)	Single nucleotide variant (nonsense +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 853724	NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)	MEFV (G114S +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 850658	NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	MEFV (P183L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 848470	NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)	MEFV (E276D)	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 (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 828008	NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)	MEFV (K119N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
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
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 803185	NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)	LOC126862264, MEFV (W439G +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
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 +2 more	GConflicting classifications of pathogenicity
Select item 803181	NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)	LOC126862264, MEFV (G632A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 803178	NM_000243.3(MEFV):c.2150G>A (p.Arg717His)	LOC126862264, MEFV (R717H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 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 793936	NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 761101	NM_000243.3(MEFV):c.231C>A (p.Ile77=)	MEFV	Single nucleotide variant (synonymous 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 756743	NM_000243.3(MEFV):c.456G>A (p.Gly152=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 755528	NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)	MEFV (A139D)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 738832	NM_000243.3(MEFV):c.48G>A (p.Leu16=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 676934	NM_000243.3(MEFV):c.1611-90C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 675625	NM_000243.2(MEFV):c.-330G>A	MEFV	Single nucleotide variant	Acute febrile neutrophilic dermatosis +3 more	GBenign/Likely benign
Select item 670052	NM_000243.3(MEFV):c.414A>T (p.Gly138=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +4 more	GConflicting classifications of pathogenicity
Select item 669769	NM_000243.3(MEFV):c.1770G>A (p.Leu590=)	LOC126862264, MEFV (D438N)	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 664952	NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)	MEFV (S179N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 663143	NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)	MEFV (L384P +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 651794	NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)	MEFV (G196R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 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)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 646921	NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	MEFV (A511V +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +3 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 633300	NM_000243.3(MEFV):c.564C>G (p.Pro188=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 633298	NM_000243.3(MEFV):c.239G>A (p.Arg80His)	MEFV (R80H)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +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 632250	NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)	MEFV (E84K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 625980	NM_000243.3(MEFV):c.1131C>T (p.Arg377=)	MEFV	Single nucleotide variant (synonymous variant)	Acute febrile neutrophilic dermatosis +2 more	GUncertain significance
Select item 618207	NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	MEFV (G111R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 578339	NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)	MEFV (S104C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity

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