AQR[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
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
Select item 3128160	NM_014691.3(AQR):c.10C>T (p.Pro4Ser)	AQR, LOC130056762 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526440	GRCh37/hg19 15q14(chr15:34881568-35447442)	ACTC1, AQR +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76