ClinVar for Gene (Select 26146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3017908	NM_015650.4(TRAF3IP1):c.435A>T (p.Arg145Ser)	TRAF3IP1 (R145S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010811	NM_015650.4(TRAF3IP1):c.1858_1860delinsCTA (p.Met620Leu)	TRAF3IP1 (M620L +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 3009593	NM_015650.4(TRAF3IP1):c.462G>A (p.Val154=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000672	NM_015650.4(TRAF3IP1):c.355-6G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000162	NM_015650.4(TRAF3IP1):c.1944T>C (p.Ala648=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993942	NM_015650.4(TRAF3IP1):c.1386G>A (p.Gly462=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977832	NM_015650.4(TRAF3IP1):c.1612+15C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972273	NM_015650.4(TRAF3IP1):c.1367+20C>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971570	NM_015650.4(TRAF3IP1):c.1613-3C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971569	NM_015650.4(TRAF3IP1):c.1213A>G (p.Ser405Gly)	TRAF3IP1 (S405G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970328	NM_015650.4(TRAF3IP1):c.1791A>G (p.Ala597=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969696	NM_015650.4(TRAF3IP1):c.42G>C (p.Gly14=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968412	NM_015650.4(TRAF3IP1):c.543T>C (p.Asp181=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968364	NM_015650.4(TRAF3IP1):c.1950C>G (p.Leu650=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967231	NM_015650.4(TRAF3IP1):c.668G>A (p.Arg223Gln)	TRAF3IP1 (R223Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957580	NM_015650.4(TRAF3IP1):c.123+17G>A	TRAF3IP1, LOC129935942	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957222	NM_015650.4(TRAF3IP1):c.123+16C>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956755	NM_015650.4(TRAF3IP1):c.768G>T (p.Gly256=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881492	NM_015650.4(TRAF3IP1):c.1856A>G (p.Gln619Arg)	TRAF3IP1 (Q553R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880792	NM_015650.4(TRAF3IP1):c.1629A>G (p.Lys543=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877400	NM_015650.4(TRAF3IP1):c.978T>C (p.Ala326=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859554	NM_015650.4(TRAF3IP1):c.193-16A>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854024	NM_015650.4(TRAF3IP1):c.1839C>A (p.Ala613=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840830	NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter)	TRAF3IP1 (E187*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2828854	NM_015650.4(TRAF3IP1):c.498+16C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810338	NM_015650.4(TRAF3IP1):c.1451+17A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809461	NM_015650.4(TRAF3IP1):c.1821C>T (p.Ile607=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808977	NM_015650.4(TRAF3IP1):c.102C>T (p.Tyr34=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793156	NM_015650.4(TRAF3IP1):c.906T>G (p.Pro302=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793052	NM_015650.4(TRAF3IP1):c.2050A>G (p.Ser684Gly)	TRAF3IP1 (S618G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790996	NM_015650.4(TRAF3IP1):c.1576-14C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788937	NM_015650.4(TRAF3IP1):c.681C>T (p.Asp227=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787243	NM_015650.4(TRAF3IP1):c.1262-13G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772715	NM_015650.4(TRAF3IP1):c.1689+19T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761070	NM_015650.4(TRAF3IP1):c.1042C>A (p.Arg348=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759771	NM_015650.4(TRAF3IP1):c.123+1G>T	LOC129935942, TRAF3IP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2753182	NM_015650.4(TRAF3IP1):c.228C>T (p.Ala76=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751273	NM_015650.4(TRAF3IP1):c.424C>G (p.Leu142Val)	TRAF3IP1 (L142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736448	NM_015650.4(TRAF3IP1):c.1617A>G (p.Gly539=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734435	NM_015650.4(TRAF3IP1):c.774_775del (p.Lys259fs)	TRAF3IP1 (K259fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2734434	NM_015650.4(TRAF3IP1):c.771del (p.Glu258fs)	TRAF3IP1 (E258fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2703303	NM_015650.4(TRAF3IP1):c.916-5A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2616242	NM_015650.4(TRAF3IP1):c.1474T>C (p.Ser492Pro)	TRAF3IP1 (S492P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553954	NM_015650.4(TRAF3IP1):c.709A>G (p.Arg237Gly)	TRAF3IP1 (R237G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521419	NM_015650.4(TRAF3IP1):c.1225G>A (p.Glu409Lys)	TRAF3IP1 (E409K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520508	NM_015650.4(TRAF3IP1):c.1227G>C (p.Glu409Asp)	TRAF3IP1 (E409D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2437221	NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)	TRAF3IP1 (R271Q)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GUncertain significance
Select item 2426206	NC_000002.11:g.(?_239306080)_(239307560_?)dup	TRAF3IP1	Duplication	not provided	GUncertain significance
Select item 2426205	NC_000002.11:g.(?_239306080)_(239307560_?)del	TRAF3IP1	Deletion	not provided	GUncertain significance
Select item 2426204	NC_000002.11:g.(?_239229304)_(239238003_?)del	TRAF3IP1	Deletion	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2422100	NM_015650.4(TRAF3IP1):c.1876A>C (p.Arg626=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414698	NM_015650.4(TRAF3IP1):c.764G>A (p.Gly255Glu)	TRAF3IP1 (G255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365122	NM_015650.4(TRAF3IP1):c.68C>T (p.Thr23Ile)	TRAF3IP1 (T23I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302346	NM_015650.4(TRAF3IP1):c.52C>T (p.Arg18Trp)	TRAF3IP1 (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295531	NM_015650.4(TRAF3IP1):c.1961A>C (p.Glu654Ala)	TRAF3IP1 (E654A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281865	NM_015650.4(TRAF3IP1):c.928G>A (p.Gly310Arg)	TRAF3IP1 (G310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256765	NM_015650.4(TRAF3IP1):c.485A>G (p.His162Arg)	TRAF3IP1 (H162R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247515	NM_015650.4(TRAF3IP1):c.422C>T (p.Ser141Leu)	TRAF3IP1 (S141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235731	NM_015650.4(TRAF3IP1):c.742G>A (p.Glu248Lys)	TRAF3IP1 (E248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200848	NM_015650.4(TRAF3IP1):c.1502C>G (p.Ser501Cys)	TRAF3IP1 (S435C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193844	NM_015650.4(TRAF3IP1):c.1014G>A (p.Lys338=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173131	NM_015650.4(TRAF3IP1):c.1972A>G (p.Lys658Glu)	TRAF3IP1 (K658E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164957	NM_015650.4(TRAF3IP1):c.369dup (p.Ala124fs)	TRAF3IP1 (A124fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2164282	NM_015650.4(TRAF3IP1):c.699del (p.Asp233fs)	TRAF3IP1 (D233fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2157249	NM_015650.4(TRAF3IP1):c.988-7C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2144758	NM_015650.4(TRAF3IP1):c.1910+4G>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2144344	NC_000002.12:g.238397683GGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTG[2]	TRAF3IP1	Microsatellite	not provided	GLikely benign
Select item 2133734	NM_015650.4(TRAF3IP1):c.463C>A (p.Arg155=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133724	NM_015650.4(TRAF3IP1):c.101A>G (p.Tyr34Cys)	TRAF3IP1 (Y34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130266	NM_015650.4(TRAF3IP1):c.904C>T (p.Pro302Ser)	TRAF3IP1 (P302S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129589	NM_015650.4(TRAF3IP1):c.568G>A (p.Glu190Lys)	TRAF3IP1 (E190K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128583	NM_015650.4(TRAF3IP1):c.1768A>G (p.Ile590Val)	TRAF3IP1 (I524V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128163	NM_015650.4(TRAF3IP1):c.1885G>A (p.Ala629Thr)	TRAF3IP1 (A563T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127660	NM_015650.4(TRAF3IP1):c.26C>T (p.Thr9Met)	TRAF3IP1 (T9M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122006	NM_015650.4(TRAF3IP1):c.1694G>A (p.Arg565Gln)	TRAF3IP1 (R499Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119349	NM_015650.4(TRAF3IP1):c.802G>T (p.Glu268Ter)	TRAF3IP1 (E268*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2119290	NM_015650.4(TRAF3IP1):c.1063+9A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117167	NM_015650.4(TRAF3IP1):c.1910+13A>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116994	NM_015650.4(TRAF3IP1):c.1652A>T (p.Tyr551Phe)	TRAF3IP1 (Y485F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116651	NM_015650.4(TRAF3IP1):c.763G>A (p.Gly255Arg)	TRAF3IP1 (G255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116584	NM_015650.4(TRAF3IP1):c.1576G>A (p.Val526Ile)	TRAF3IP1 (V460I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114275	NM_015650.4(TRAF3IP1):c.114C>T (p.Ile38=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113270	NM_015650.4(TRAF3IP1):c.1690-20C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112292	NM_015650.4(TRAF3IP1):c.1966C>T (p.Leu656=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109501	NM_015650.4(TRAF3IP1):c.1747A>G (p.Ile583Val)	TRAF3IP1 (I517V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108804	NM_015650.4(TRAF3IP1):c.1261+2T>A	TRAF3IP1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2106833	NM_015650.4(TRAF3IP1):c.1721A>C (p.Lys574Thr)	TRAF3IP1 (K508T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106653	NM_015650.4(TRAF3IP1):c.212G>C (p.Ser71Thr)	TRAF3IP1 (S71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105958	NM_015650.4(TRAF3IP1):c.688C>T (p.Arg230Ter)	TRAF3IP1 (R230*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2105429	NM_015650.4(TRAF3IP1):c.1841T>C (p.Met614Thr)	TRAF3IP1 (M614T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103727	NM_015650.4(TRAF3IP1):c.297T>C (p.His99=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101623	NM_015650.4(TRAF3IP1):c.1602G>A (p.Glu534=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096923	NM_015650.4(TRAF3IP1):c.1764G>A (p.Thr588=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094143	NM_015650.4(TRAF3IP1):c.2069G>A (p.Arg690Lys)	TRAF3IP1 (R624K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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