Related gene-specific medical variations for Gene (Select 4210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361341	NM_000243.3(MEFV):c.1122G>T (p.Gln374His)	MEFV (Q163H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350086	NM_000243.3(MEFV):c.1760-85T>C	LOC126862264, MEFV (L406P)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder	GUncertain significance
Select item 3239681	NM_000243.3(MEFV):c.590del (p.Gly197fs)	MEFV (G197fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever	GLikely pathogenic
Select item 3239239	NM_000243.3(MEFV):c.2038A>G (p.Met680Val)	LOC126862264, MEFV (M680V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3125109	NM_000243.3(MEFV):c.1875G>C (p.Lys625Asn)	LOC126862264, MEFV (K625N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061166	NM_000243.3(MEFV):c.1760-39T>C	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	MEFV-related disorder	GLikely benign
Select item 3058657	NM_000243.3(MEFV):c.1760-121A>G	LOC126862264, MEFV (H394R)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder	GUncertain significance
Select item 3031961	NM_000243.3(MEFV):c.2102C>A (p.Ala701Glu)	LOC126862264, MEFV (A701E)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder	GUncertain significance
Select item 3018841	NM_000243.3(MEFV):c.1759+9A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3009632	NM_000243.3(MEFV):c.1986G>A (p.Lys662=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3007971	NM_000243.3(MEFV):c.1792+11A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3003806	NM_000243.3(MEFV):c.2076A>T (p.Ile692=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2992215	NM_000243.3(MEFV):c.1759+13G>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2984451	NM_000243.3(MEFV):c.1959T>C (p.Arg653=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2964772	NM_000243.3(MEFV):c.2016A>T (p.Thr672=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2958282	NM_000243.3(MEFV):c.1719C>T (p.Tyr573=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2917027	NM_000243.3(MEFV):c.1793-14A>C	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2907977	NM_000243.3(MEFV):c.1792+20C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2905381	NM_000243.3(MEFV):c.1824C>T (p.Tyr608=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2903632	NM_000243.3(MEFV):c.1827C>A (p.Pro609=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2899623	NM_000243.3(MEFV):c.1792+15C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2898609	NM_000243.3(MEFV):c.2068G>A (p.Val690Met)	LOC126862264, MEFV (V690M)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2896649	NM_000243.3(MEFV):c.1759+7C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2889211	NM_000243.3(MEFV):c.1727-12C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2868318	NM_000243.3(MEFV):c.1935T>A (p.Ser645=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2861672	NM_000243.3(MEFV):c.2089A>C (p.Asn697His)	LOC126862264, MEFV (N697H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2860030	NM_000243.3(MEFV):c.1947C>G (p.Leu649=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2846284	NM_000243.3(MEFV):c.1759+14T>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2828703	NM_000243.3(MEFV):c.1726+13G>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2806268	NM_000243.3(MEFV):c.1812A>G (p.Ala604=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2794773	NM_000243.3(MEFV):c.2130A>G (p.Leu710=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2750887	NM_000243.3(MEFV):c.1884G>A (p.Arg628=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2748707	NM_000243.3(MEFV):c.1727-10_1727-6del	LOC126862264, MEFV	Deletion (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2743318	NM_000243.3(MEFV):c.1792+16A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2689420	NM_000243.3(MEFV):c.148C>G (p.Pro50Ala)	MEFV (P50A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2627115	NM_000243.3(MEFV):c.1895G>T (p.Gly632Val)	LOC126862264, MEFV (G632V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2625099	NM_000243.3(MEFV):c.1716G>A (p.Lys572=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2580225	NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)	MEFV (N130K)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2503907	NM_000243.3(MEFV):c.1727-2A>C	LOC126862264, MEFV	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2503906	NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe)	LOC126862264, MEFV (L649F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2433732	NM_000243.3(MEFV):c.667C>T (p.Gln223Ter)	MEFV (Q223*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2433731	NM_000243.3(MEFV):c.1252G>C (p.Glu418Gln)	MEFV (E207Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429137	NM_000243.3(MEFV):c.1727-2A>G	LOC126862264, MEFV	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
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 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 2415236	NM_000243.3(MEFV):c.1760-13T>C	LOC126862264, MEFV (I430T)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2192659	NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)	LOC126862264, MEFV (V657L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2165408	NM_000243.3(MEFV):c.1920C>T (p.Ile640=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2151614	NM_000243.3(MEFV):c.2085G>A (p.Lys695=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2149428	NM_000243.3(MEFV):c.1773T>C (p.Ile591=)	LOC126862264, MEFV (W439R)	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2124811	NM_000243.3(MEFV):c.1893T>C (p.Asp631=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2121429	NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)	LOC126862264, MEFV (D616N)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2114201	NM_000243.3(MEFV):c.1760-1G>T	LOC126862264, MEFV (S434I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2087900	NM_000243.3(MEFV):c.1734G>A (p.Leu578=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2077003	NM_000243.3(MEFV):c.1955G>A (p.Arg652His)	LOC126862264, MEFV (R652H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1996148	NM_000243.3(MEFV):c.2112T>C (p.Val704=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1990523	NM_000243.3(MEFV):c.2124C>T (p.Arg708=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1987028	NM_000243.3(MEFV):c.2160C>T (p.Ile720=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1980778	NM_000243.3(MEFV):c.2064C>T (p.Tyr688=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1968688	NM_000243.3(MEFV):c.1927C>T (p.Leu643=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1967072	NM_000243.3(MEFV):c.1792+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1965308	NM_000243.3(MEFV):c.1792+15C>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1956748	NM_000243.3(MEFV):c.1759+14T>C	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1925442	NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)	LOC126862264, MEFV (V722L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1918691	NM_000243.3(MEFV):c.1760-7_1760-6del	LOC126862264, MEFV (L432fs)	Microsatellite (frameshift variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1917937	NM_000243.3(MEFV):c.1792+10C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1785563	NM_000243.3(MEFV):c.2078TGA[3] (p.Met694_Lys695insMet)	LOC126862264, MEFV	Microsatellite (inframe_indel +2 more)	Inborn genetic diseases	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 1779485	NM_000243.3(MEFV):c.1757A>G (p.Asn586Ser)	LOC126862264, MEFV (N375S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778193	NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)	LOC126862264, MEFV (E354G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1704489	NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys)	LOC126862264, MEFV (R628K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1683772	NM_000243.3(MEFV):c.1724C>G (p.Ser575Ter)	LOC126862264, MEFV (S364* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +2 more	GUncertain significance
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 1674622	NM_000243.3(MEFV):c.1944C>T (p.Phe648=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1669276	NM_000243.3(MEFV):c.2055G>A (p.Glu685=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1668749	NM_000243.3(MEFV):c.1760-87T>A	LOC126862264, MEFV (C405*)	Single nucleotide variant (nonsense +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1656656	NM_000243.3(MEFV):c.1821T>C (p.Ala607=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1650554	NM_000243.3(MEFV):c.1760-8C>A	LOC126862264, MEFV (L432I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GLikely benign
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 1639954	NM_000243.3(MEFV):c.1759+15A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1627026	NM_000243.3(MEFV):c.2121C>G (p.Thr707=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1617907	NM_000243.3(MEFV):c.2031A>G (p.Lys677=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1607814	NM_000243.3(MEFV):c.1727-9A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1583108	NM_000243.3(MEFV):c.1727-7A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1577361	NM_000243.3(MEFV):c.1698T>C (p.Phe566=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 1549510	NM_000243.3(MEFV):c.2115C>G (p.Pro705=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1546860	NM_000243.3(MEFV):c.1854G>A (p.Lys618=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1539381	NM_000243.3(MEFV):c.1727-12C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 1533473	NM_000243.3(MEFV):c.1836C>T (p.Ile612=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1531225	NM_000243.3(MEFV):c.2097C>T (p.Tyr699=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1530174	NM_000243.3(MEFV):c.1760-19A>G	LOC126862264, MEFV (Y428C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 1522096	NM_000243.3(MEFV):c.1991C>T (p.Ala664Val)	LOC126862264, MEFV (A664V)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1520034	NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro)	LOC126862264, MEFV (S645P)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1510093	NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu)	LOC126862264, MEFV (W689L)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 1482775	NM_000243.3(MEFV):c.1793-2A>C	LOC126862264, MEFV	Single nucleotide variant (splice acceptor variant)	Familial Mediterranean fever	GUncertain significance
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

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