AQR[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2347717	NM_014691.3(AQR):c.4343C>T (p.Pro1448Leu)	AQR (P1448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204888	NM_014691.3(AQR):c.4295C>G (p.Ala1432Gly)	AQR (A1432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459196	NM_014691.3(AQR):c.4280G>A (p.Arg1427His)	AQR (R1427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294961	NM_014691.3(AQR):c.4269C>A (p.Asp1423Glu)	AQR (D1423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262012	NM_014691.3(AQR):c.4244C>G (p.Ala1415Gly)	AQR (A1415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128177	NM_014691.3(AQR):c.4180G>A (p.Gly1394Ser)	AQR (G1394S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128176	NM_014691.3(AQR):c.4111C>T (p.His1371Tyr)	AQR (H1371Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308727	NM_014691.3(AQR):c.4018A>G (p.Thr1340Ala)	AQR (T1340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128175	NM_014691.3(AQR):c.3995T>C (p.Ile1332Thr)	AQR (I1332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309229	NM_014691.3(AQR):c.3863G>A (p.Arg1288His)	AQR (R1288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681348	NM_014691.3(AQR):c.3743A>C (p.Asn1248Thr)	AQR (N1248T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2258272	NM_014691.3(AQR):c.3658C>T (p.Pro1220Ser)	AQR (P1220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128174	NM_014691.3(AQR):c.3593A>T (p.Tyr1198Phe)	AQR (Y1198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614783	NM_014691.3(AQR):c.3593A>G (p.Tyr1198Cys)	AQR (Y1198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128173	NM_014691.3(AQR):c.3475C>T (p.His1159Tyr)	AQR (H1159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391457	NM_014691.3(AQR):c.3444C>G (p.Asn1148Lys)	AQR (N1148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128172	NM_014691.3(AQR):c.2971A>G (p.Met991Val)	AQR (M991V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477663	NM_014691.3(AQR):c.2889A>T (p.Glu963Asp)	AQR (E963D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128171	NM_014691.3(AQR):c.2711G>A (p.Arg904Gln)	AQR (R904Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605152	NM_014691.3(AQR):c.2483G>T (p.Gly828Val)	AQR (G828V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490366	NM_014691.3(AQR):c.2398A>G (p.Ile800Val)	AQR (I800V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396883	NM_014691.3(AQR):c.2389C>T (p.Arg797Cys)	AQR (R797C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231353	NM_014691.3(AQR):c.2326A>G (p.Thr776Ala)	AQR (T776A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490840	NM_014691.3(AQR):c.2314G>A (p.Glu772Lys)	AQR (E772K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128168	NM_014691.3(AQR):c.2288A>T (p.Asp763Val)	AQR (D763V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517265	NM_014691.3(AQR):c.2167C>T (p.His723Tyr)	AQR (H723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542342	NM_014691.3(AQR):c.2120A>G (p.Asn707Ser)	AQR (N707S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519766	NM_014691.3(AQR):c.2044G>C (p.Val682Leu)	AQR (V682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309259	NM_014691.3(AQR):c.1846C>T (p.Pro616Ser)	AQR (P616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313419	NM_014691.3(AQR):c.1816C>T (p.Arg606Cys)	AQR (R606C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128166	NM_014691.3(AQR):c.1736G>A (p.Arg579Gln)	AQR (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128165	NM_014691.3(AQR):c.1723A>C (p.Thr575Pro)	AQR (T575P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605902	NM_014691.3(AQR):c.1649A>G (p.Lys550Arg)	AQR (K550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128164	NM_014691.3(AQR):c.1581A>G (p.Ile527Met)	AQR (I527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309268	NM_014691.3(AQR):c.1579A>G (p.Ile527Val)	AQR (I527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128163	NM_014691.3(AQR):c.1579A>C (p.Ile527Leu)	AQR (I527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128162	NM_014691.3(AQR):c.1558G>A (p.Val520Ile)	AQR (V520I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323858	NM_014691.3(AQR):c.1421G>A (p.Arg474His)	AQR (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218176	NM_014691.3(AQR):c.1240C>G (p.Arg414Gly)	AQR (R414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309238	NM_014691.3(AQR):c.1045T>C (p.Tyr349His)	AQR (Y349H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309249	NM_014691.3(AQR):c.1030C>T (p.His344Tyr)	AQR (H344Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309278	NM_014691.3(AQR):c.883G>A (p.Gly295Ser)	AQR (G295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128178	NM_014691.3(AQR):c.766C>T (p.Leu256Phe)	AQR (L256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620994	NM_014691.3(AQR):c.721C>T (p.Pro241Ser)	AQR (P241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245277	NM_014691.3(AQR):c.584A>C (p.Lys195Thr)	AQR (K195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544872	NM_014691.3(AQR):c.566A>G (p.Lys189Arg)	AQR (K189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231183	NM_014691.3(AQR):c.538C>A (p.Leu180Met)	AQR (L180M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346508	NM_014691.3(AQR):c.495A>C (p.Gln165His)	AQR (Q165H)	Single nucleotide variant (missense variant)	AQR-related condition	GUncertain significance
Select item 2371873	NM_014691.3(AQR):c.386C>T (p.Ala129Val)	AQR (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223251	NM_014691.3(AQR):c.364T>A (p.Phe122Ile)	AQR (F122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128170	NM_014691.3(AQR):c.265G>A (p.Ala89Thr)	AQR (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128167	NM_014691.3(AQR):c.192A>G (p.Ile64Met)	AQR (I64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128161	NM_014691.3(AQR):c.111G>T (p.Lys37Asn)	AQR (K37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 53