ClinVar for Gene (Select 7132) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180264	NM_001065.4(TNFRSF1A):c.258C>A (p.Ser86Arg)	TNFRSF1A (S86R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3051385	NM_001065.4(TNFRSF1A):c.552-945G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNFRSF1A-related condition	GLikely benign
Select item 3037047	NM_001065.4(TNFRSF1A):c.552-967A>G	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNFRSF1A-related condition	GLikely benign
Select item 3036277	NM_001065.4(TNFRSF1A):c.1058-7C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNFRSF1A-related condition	GLikely benign
Select item 3033511	NM_001065.4(TNFRSF1A):c.551+1065_551+1068del	TNFRSF1A	Deletion (intron variant)	TNFRSF1A-related condition	GLikely benign
Select item 3033208	NM_001065.4(TNFRSF1A):c.551+1064_551+1068del	TNFRSF1A	Deletion (intron variant)	TNFRSF1A-related condition	GLikely benign
Select item 3030542	NM_001065.4(TNFRSF1A):c.1083C>A (p.Ala361=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNFRSF1A-related condition	GLikely benign
Select item 3017771	NM_001065.4(TNFRSF1A):c.927T>G (p.Ala309=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 3015821	NM_001065.4(TNFRSF1A):c.322+19G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 3007453	NM_001065.4(TNFRSF1A):c.1318G>A (p.Ala440Thr)	TNFRSF1A (A287T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2999670	NM_001065.4(TNFRSF1A):c.194-14G>C	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2991462	NM_001065.4(TNFRSF1A):c.740-6C>A	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2986341	NM_001065.4(TNFRSF1A):c.774G>T (p.Glu258Asp)	TNFRSF1A (E150D +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2977883	NM_001065.4(TNFRSF1A):c.861C>G (p.Pro287=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2959206	NM_001065.4(TNFRSF1A):c.40-6C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2904226	NM_001065.4(TNFRSF1A):c.769-19G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2896361	NM_001065.4(TNFRSF1A):c.473-5T>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2876634	NM_001065.4(TNFRSF1A):c.1359T>G (p.Leu453=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2875386	NM_001065.4(TNFRSF1A):c.732C>T (p.Tyr244=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2875035	NM_001065.4(TNFRSF1A):c.1367G>A (p.Ter456=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2864995	NM_001065.4(TNFRSF1A):c.769-11C>G	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2864083	NM_001065.4(TNFRSF1A):c.1058-8C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2856638	NM_001065.4(TNFRSF1A):c.974T>G (p.Leu325Arg)	TNFRSF1A (L172R +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2856624	NM_001065.4(TNFRSF1A):c.1343C>A (p.Pro448Gln)	TNFRSF1A (P295Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2854675	NM_001065.4(TNFRSF1A):c.626-13G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2846617	NM_001065.4(TNFRSF1A):c.369C>G (p.Thr123=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2840600	NM_001065.4(TNFRSF1A):c.625+18G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2837512	NM_001065.4(TNFRSF1A):c.1097T>A (p.Val366Glu)	TNFRSF1A (V258E +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2834843	NM_001065.4(TNFRSF1A):c.626G>T (p.Gly209Val)	TNFRSF1A (G101V +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2827460	NM_001065.4(TNFRSF1A):c.576G>C (p.Thr192=)	TNFRSF1A	Single nucleotide variant (synonymous variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2818327	NM_001065.4(TNFRSF1A):c.193+7G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2816278	NM_001065.4(TNFRSF1A):c.740-9T>A	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2812978	NM_001065.4(TNFRSF1A):c.323-18A>G	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2806260	NM_001065.4(TNFRSF1A):c.740-17T>G	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2804789	NM_001065.4(TNFRSF1A):c.58G>A (p.Val20Met)	TNFRSF1A (V20M)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2803677	NM_001065.4(TNFRSF1A):c.1165G>A (p.Glu389Lys)	TNFRSF1A (E236K +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2800404	NM_001065.4(TNFRSF1A):c.901C>T (p.Pro301Ser)	TNFRSF1A (P193S +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2799310	NM_001065.4(TNFRSF1A):c.740-17T>C	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2796122	NM_001065.4(TNFRSF1A):c.847C>T (p.Leu283=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2795310	NM_001065.4(TNFRSF1A):c.1033G>A (p.Ala345Thr)	TNFRSF1A (A192T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2792634	NM_001065.4(TNFRSF1A):c.769G>T (p.Gly257Trp)	TNFRSF1A (G257W +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2777996	NM_001065.4(TNFRSF1A):c.1081G>A (p.Ala361Thr)	TNFRSF1A (A208T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2771581	NM_001065.4(TNFRSF1A):c.828T>C (p.Thr276=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2751684	NM_001065.4(TNFRSF1A):c.739+5G>C	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2751472	NM_001065.4(TNFRSF1A):c.922G>T (p.Ala308Ser)	TNFRSF1A (A308S +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2751456	NM_001065.4(TNFRSF1A):c.660T>C (p.Phe220=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2749033	NM_001065.4(TNFRSF1A):c.740-20C>G	LOC130007232, TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2739998	NM_001065.4(TNFRSF1A):c.769-19G>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2735797	NM_001065.4(TNFRSF1A):c.241T>G (p.Cys81Gly)	TNFRSF1A (C81G)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2735796	NM_001065.4(TNFRSF1A):c.259G>A (p.Gly87Ser)	TNFRSF1A (G87S)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2733307	NM_001065.4(TNFRSF1A):c.1058-15C>T	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2731402	NM_001065.4(TNFRSF1A):c.971T>C (p.Ile324Thr)	TNFRSF1A (I171T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2728328	NM_001065.4(TNFRSF1A):c.627C>T (p.Gly209=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2725014	NM_001065.4(TNFRSF1A):c.1057+16_1057+18dup	TNFRSF1A	Duplication (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2724175	NM_001065.4(TNFRSF1A):c.1108C>T (p.Arg370Cys)	TNFRSF1A (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2724141	NM_001065.4(TNFRSF1A):c.455G>A (p.Gly152Glu)	TNFRSF1A (G152E +1 more)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2720463	NM_001065.4(TNFRSF1A):c.397C>A (p.Arg133=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2714429	NM_001065.4(TNFRSF1A):c.590C>G (p.Pro197Arg)	TNFRSF1A (P197R +2 more)	Single nucleotide variant (missense variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2714028	NM_001065.4(TNFRSF1A):c.1254G>A (p.Leu418=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2712107	NM_001065.4(TNFRSF1A):c.24C>T (p.Asp8=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2711316	NM_001065.4(TNFRSF1A):c.791C>A (p.Thr264Asn)	TNFRSF1A (T156N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2709064	NM_001065.4(TNFRSF1A):c.237G>C (p.Thr79=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2706728	NM_001065.4(TNFRSF1A):c.71C>A (p.Pro24His)	TNFRSF1A (P24H)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2703325	NM_001065.4(TNFRSF1A):c.237G>A (p.Thr79=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2703004	NM_001065.4(TNFRSF1A):c.546T>C (p.Cys182=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2696952	NM_001065.4(TNFRSF1A):c.1233G>C (p.Thr411=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2683183	NM_001065.4(TNFRSF1A):c.373T>G (p.Cys125Gly)	TNFRSF1A (C125G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2683182	NM_001065.4(TNFRSF1A):c.918C>A (p.Asn306Lys)	TNFRSF1A (N153K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2682154	NM_001065.4(TNFRSF1A):c.950_951insTG (p.Tyr318fs)	TNFRSF1A (Y165fs +2 more)	Insertion (frameshift variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely pathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2663662	NM_001065.4(TNFRSF1A):c.679C>G (p.Leu227Val)	TNFRSF1A (L119V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2642613	NM_001065.4(TNFRSF1A):c.551+1066_551+1068del	TNFRSF1A	Deletion (intron variant)	not provided	GLikely benign
Select item 2642612	NM_001065.4(TNFRSF1A):c.575C>A (p.Thr192Lys)	TNFRSF1A (T192K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642611	NM_001065.4(TNFRSF1A):c.1180C>A (p.Arg394Ser)	TNFRSF1A (R241S +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +1 more	GUncertain significance
Select item 2633591	NM_001065.4(TNFRSF1A):c.404A>G (p.Tyr135Cys)	TNFRSF1A (Y135C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	TNFRSF1A-related condition	GUncertain significance
Select item 2632181	NM_001065.4(TNFRSF1A):c.358G>A (p.Asp120Asn)	TNFRSF1A (D120N +1 more)	Single nucleotide variant (missense variant +2 more)	TNFRSF1A-related condition	GUncertain significance
Select item 2632168	NM_001065.4(TNFRSF1A):c.1285G>T (p.Asp429Tyr)	TNFRSF1A (D276Y +2 more)	Single nucleotide variant (missense variant +1 more)	TNFRSF1A-related condition	GUncertain significance
Select item 2631812	NM_001065.4(TNFRSF1A):c.899C>T (p.Thr300Ile)	TNFRSF1A (T147I +2 more)	Single nucleotide variant (missense variant +1 more)	TNFRSF1A-related condition	GUncertain significance
Select item 2613349	NM_001065.4(TNFRSF1A):c.826A>T (p.Thr276Ser)	TNFRSF1A (T123S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604159	NM_001065.4(TNFRSF1A):c.563G>C (p.Ser188Thr)	TNFRSF1A (S35T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582901	NM_001065.4(TNFRSF1A):c.1103C>A (p.Pro368Gln)	TNFRSF1A (P215Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573126	NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)	TNFRSF1A (P113T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2538011	NM_001065.4(TNFRSF1A):c.1228C>T (p.Arg410Cys)	TNFRSF1A (R302C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2468676	NM_001065.4(TNFRSF1A):c.1087G>C (p.Val363Leu)	TNFRSF1A (V210L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2437133	NM_001065.4(TNFRSF1A):c.112G>C (p.Glu38Gln)	TNFRSF1A (E38Q)	Single nucleotide variant (missense variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2428676	NM_001065.4(TNFRSF1A):c.1246G>A (p.Ala416Thr)	TNFRSF1A (A263T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2418954	NM_001065.4(TNFRSF1A):c.78G>A (p.Gly26=)	TNFRSF1A	Single nucleotide variant (non-coding transcript variant +3 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2319054	NM_001065.4(TNFRSF1A):c.493G>C (p.Val165Leu)	TNFRSF1A (V165L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2314938	NM_001065.4(TNFRSF1A):c.321G>T (p.Lys107Asn)	TNFRSF1A (K107N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276216	NM_001065.4(TNFRSF1A):c.1001T>A (p.Ile334Asn)	TNFRSF1A (I226N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248483	NM_001065.4(TNFRSF1A):c.878T>C (p.Phe293Ser)	TNFRSF1A (F293S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199429	NM_001065.4(TNFRSF1A):c.943G>A (p.Ala315Thr)	TNFRSF1A (A162T +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2182644	NM_001065.4(TNFRSF1A):c.213C>T (p.Asp71=)	TNFRSF1A	Single nucleotide variant (synonymous variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2182547	NM_001065.4(TNFRSF1A):c.1191C>G (p.Arg397=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2179212	NM_001065.4(TNFRSF1A):c.1140G>A (p.Leu380=)	TNFRSF1A	Single nucleotide variant (synonymous variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 2175380	NM_001065.4(TNFRSF1A):c.1160G>A (p.Arg387Gln)	TNFRSF1A (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GUncertain significance
Select item 2168110	NM_001065.4(TNFRSF1A):c.1057+14G>A	TNFRSF1A	Single nucleotide variant (intron variant)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign

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