ClinVar for Gene (Select 4210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251912	NM_000243.3(MEFV):c.865G>A (p.Ala289Thr)	MEFV (A289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	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 3234866	NM_000243.3(MEFV):c.14C>G (p.Pro5Arg)	MEFV (P5R)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis	GUncertain significance
Select item 3230738	NM_000243.3(MEFV):c.254A>T (p.Glu85Val)	MEFV (E85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230737	NM_000243.3(MEFV):c.253G>A (p.Glu85Lys)	MEFV (E85K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230735	NM_000243.3(MEFV):c.1646C>T (p.Thr549Ile)	MEFV (T338I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125110	NM_000243.3(MEFV):c.394C>A (p.Pro132Thr)	MEFV (P132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3125108	NM_000243.3(MEFV):c.1557G>C (p.Lys519Asn)	MEFV (K308N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068853	NM_000243.3(MEFV):c.888A>G (p.Gly296=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified	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 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	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 3053753	NM_000243.3(MEFV):c.258C>T (p.Leu86=)	MEFV	Single nucleotide variant (synonymous variant)	MEFV-related disorder	GLikely benign
Select item 3051794	NM_000243.3(MEFV):c.910+7T>G	MEFV	Single nucleotide variant (intron variant)	MEFV-related disorder	GLikely benign
Select item 3051422	NM_000243.3(MEFV):c.910+6T>G	MEFV	Single nucleotide variant (intron variant)	MEFV-related disorder	GLikely benign
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 3030041	NM_000243.3(MEFV):c.852T>A (p.Asp284Glu)	MEFV (D284E)	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder	GUncertain significance
Select item 3029172	NM_000243.3(MEFV):c.84G>A (p.Leu28=)	MEFV	Single nucleotide variant (synonymous variant)	MEFV-related disorder	GLikely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	UBALD1, VASN +52 more	Copy number loss	not provided	GPathogenic
Select item 3022040	NM_000243.3(MEFV):c.1261-10G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3018850	NM_000243.3(MEFV):c.966A>G (p.Pro322=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
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 3018526	NM_000243.3(MEFV):c.126G>C (p.Arg42=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3018035	NM_000243.3(MEFV):c.1281G>A (p.Leu427=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3016087	NM_000243.3(MEFV):c.832C>A (p.Arg278=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3015422	NM_000243.3(MEFV):c.1357-16G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3014696	NM_000243.3(MEFV):c.1629C>T (p.Val543=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3014416	NM_000243.3(MEFV):c.277+17C>T	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 3007710	NM_000243.3(MEFV):c.2301A>G (p.Thr767=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	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 3003804	NM_000243.3(MEFV):c.552C>A (p.Gly184=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3002868	NM_000243.3(MEFV):c.910+13C>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2999701	NM_000243.3(MEFV):c.1500C>T (p.Thr500=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2998947	NM_000243.3(MEFV):c.300C>A (p.Gly100=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2994121	NM_000243.3(MEFV):c.1449A>G (p.Ser483=)	MEFV	Single nucleotide variant (synonymous variant)	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 2987957	NM_000243.3(MEFV):c.1357-8C>T	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 2982146	NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)	MEFV (E266K +1 more)	Indel (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2980370	NM_000243.3(MEFV):c.1671C>A (p.Ile557=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2969963	NM_000243.3(MEFV):c.1527C>G (p.Leu509=)	MEFV	Single nucleotide variant (synonymous variant)	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 2963964	NM_000243.3(MEFV):c.1086G>A (p.Lys362=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2963046	NM_000243.3(MEFV):c.1356+14T>A	MEFV	Single nucleotide variant (intron variant)	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 2956147	NM_000243.3(MEFV):c.277+16C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2955530	NM_000243.3(MEFV):c.696C>T (p.Tyr232=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2955445	NM_000243.3(MEFV):c.910+16T>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2921243	NM_000243.3(MEFV):c.1588-3T>A	MEFV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2921135	NM_000243.3(MEFV):c.1588-12T>A	MEFV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921087	NM_000243.3(MEFV):c.1536G>A (p.Leu512=)	MEFV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921035	NM_000243.3(MEFV):c.74A>C (p.Lys25Thr)	MEFV (K25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920930	NM_000243.3(MEFV):c.1417C>T (p.Leu473=)	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 2917050	NM_000243.3(MEFV):c.1004C>A (p.Pro335His)	MEFV (P335H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
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 2916482	NM_000243.3(MEFV):c.597C>T (p.Ala199=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2915427	NM_000243.3(MEFV):c.1588-19T>G	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 2906458	NM_000243.3(MEFV):c.1610+16G>C	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 2904919	NM_000243.3(MEFV):c.1357-4C>T	MEFV	Single nucleotide variant (intron variant)	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 2900603	NM_000243.3(MEFV):c.1638G>A (p.Lys546=)	MEFV	Single nucleotide variant (synonymous variant)	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 2899222	NM_000243.3(MEFV):c.911-18dup	MEFV	Duplication (intron variant)	Familial Mediterranean fever	GBenign
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 2898120	NM_000243.3(MEFV):c.1357-13C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
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 2896181	NM_000243.3(MEFV):c.2250G>A (p.Gly750=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2892388	NM_000243.3(MEFV):c.1356+8C>T	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 2888950	NM_000243.3(MEFV):c.693G>C (p.Val231=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2886866	NM_000243.3(MEFV):c.2268C>T (p.Phe756=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2883357	NM_000243.3(MEFV):c.2283T>C (p.Arg761=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2883169	NM_000243.3(MEFV):c.657C>G (p.Gly219=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2882958	NM_000243.3(MEFV):c.1230C>T (p.Arg410=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2881873	NM_000243.3(MEFV):c.834G>A (p.Arg278=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2881405	NM_000243.3(MEFV):c.1614T>C (p.Ala538=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2880855	NM_000243.3(MEFV):c.1335G>A (p.Glu445=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2876756	NM_000243.3(MEFV):c.910+18C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2871131	NM_000243.3(MEFV):c.1221C>T (p.His407=)	MEFV	Single nucleotide variant (synonymous 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 2867737	NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)	MEFV	Duplication (frameshift variant)	Familial Mediterranean fever	GUncertain significance
Select item 2866858	NM_000243.3(MEFV):c.1347G>A (p.Val449=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2866637	NM_000243.3(MEFV):c.1524G>A (p.Leu508=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2866610	NM_000243.3(MEFV):c.153G>T (p.Val51=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2865393	NM_000243.3(MEFV):c.669G>A (p.Gln223=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2863882	NM_000243.3(MEFV):c.1356+14T>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2863707	NM_000243.3(MEFV):c.210C>A (p.Thr70=)	MEFV	Single nucleotide variant (synonymous variant)	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

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