AKNA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	TMEM268, TNC +377 more	Copy number loss	See cases	GPathogenic
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149899	GRCh38/hg38 9q32(chr9:114246889-114637174)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GLikely benign
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2485868	NM_000608.4(ORM2):c.187C>G (p.Gln63Glu)	AKNA, ORM2 (Q63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393300	NM_000608.4(ORM2):c.301C>T (p.Arg101Trp)	AKNA, ORM2 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601472	NM_000608.4(ORM2):c.384G>C (p.Leu128Phe)	AKNA, ORM2 (L128F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2659443	NM_000608.4(ORM2):c.405C>T (p.Asp135=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727681	NM_000608.4(ORM2):c.480C>T (p.Tyr160=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3206977	NM_000608.4(ORM2):c.490G>C (p.Asp164His)	AKNA, ORM2 (D164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291127	NM_000608.4(ORM2):c.493T>G (p.Cys165Gly)	AKNA, ORM2 (C165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295755	NM_000608.4(ORM2):c.538A>C (p.Lys180Gln)	AKNA, ORM2 (K180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302498	NM_000608.4(ORM2):c.565C>A (p.Gln189Lys)	AKNA, ORM2 (Q189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222782	NM_000608.4(ORM2):c.571G>A (p.Glu191Lys)	AKNA, ORM2 (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464992	NM_000608.4(ORM2):c.596G>A (p.Gly199Glu)	AKNA, ORM2 (G199E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231058	NM_001317950.2(AKNA):c.4291C>T (p.His1431Tyr)	AKNA (H1312Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107364	NM_001317950.2(AKNA):c.4283G>A (p.Arg1428His)	AKNA (R1428H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107360	NM_001317950.2(AKNA):c.4279C>A (p.Leu1427Met)	AKNA (L1308M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206007	NM_001317950.2(AKNA):c.4265C>T (p.Ser1422Leu)	AKNA (S1303L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401938	NM_001317950.2(AKNA):c.4253A>G (p.Gln1418Arg)	AKNA (Q1299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404519	NM_001317950.2(AKNA):c.4237C>T (p.Arg1413Cys)	AKNA (R1294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519823	NM_001317950.2(AKNA):c.4225G>A (p.Ala1409Thr)	AKNA (A1409T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487496	NM_001317950.2(AKNA):c.4210C>T (p.Arg1404Trp)	AKNA (R1404W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547974	NM_001317950.2(AKNA):c.4171G>A (p.Asp1391Asn)	AKNA (D1391N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107339	NM_001317950.2(AKNA):c.4157A>T (p.His1386Leu)	AKNA (H1267L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598826	NM_001317950.2(AKNA):c.4136C>A (p.Pro1379Gln)	AKNA (P1260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353939	NM_001317950.2(AKNA):c.4013C>T (p.Pro1338Leu)	AKNA (P1219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596657	NM_001317950.2(AKNA):c.3950C>T (p.Ser1317Leu)	AKNA (S1317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272938	NM_001317950.2(AKNA):c.3893C>T (p.Thr1298Met)	AKNA (T1179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402795	NM_001317950.2(AKNA):c.3857C>G (p.Pro1286Arg)	AKNA (P1167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107313	NM_001317950.2(AKNA):c.3833G>T (p.Gly1278Val)	AKNA (G1159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481673	NM_001317950.2(AKNA):c.3833G>A (p.Gly1278Glu)	AKNA (G1278E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219706	NM_001317950.2(AKNA):c.3823G>A (p.Gly1275Ser)	AKNA (G1275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241385	NM_001317950.2(AKNA):c.3607G>C (p.Gly1203Arg)	AKNA (G1203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218707	NM_001317950.2(AKNA):c.3584A>G (p.Gln1195Arg)	AKNA (Q1195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107293	NM_001317950.2(AKNA):c.3467G>A (p.Arg1156Gln)	AKNA (R1037Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206976	NM_001317950.2(AKNA):c.3392A>G (p.Tyr1131Cys)	AKNA (Y1012C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624020	NM_001317950.2(AKNA):c.3377C>T (p.Thr1126Ile)	AKNA (T1007I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454735	NM_001317950.2(AKNA):c.3373G>A (p.Ala1125Thr)	AKNA (A1006T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602325	NM_001317950.2(AKNA):c.3368C>A (p.Ser1123Tyr)	AKNA (S1004Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455478	NM_001317950.2(AKNA):c.3355C>T (p.Arg1119Trp)	AKNA (R1119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402230	NM_001317950.2(AKNA):c.3352G>A (p.Gly1118Ser)	AKNA (G999S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404289	NM_001317950.2(AKNA):c.3344G>A (p.Arg1115Gln)	AKNA (R1115Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381866	NM_001317950.2(AKNA):c.3310A>G (p.Thr1104Ala)	AKNA (T1104A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242820	NM_001317950.2(AKNA):c.3269G>A (p.Arg1090Gln)	AKNA (R1090Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249229	NM_001317950.2(AKNA):c.3263G>A (p.Arg1088His)	AKNA (R1088H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211043	NM_001317950.2(AKNA):c.3262C>T (p.Arg1088Cys)	AKNA (R1088C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774435	NM_001317950.2(AKNA):c.3242A>G (p.Gln1081Arg)	AKNA (Q1081R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2260493	NM_001317950.2(AKNA):c.3206C>T (p.Thr1069Ile)	AKNA (T1069I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107260	NM_001317950.2(AKNA):c.3173G>A (p.Gly1058Glu)	AKNA (G1058E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659444	NM_001317950.2(AKNA):c.3158C>T (p.Ala1053Val)	AKNA (A1053V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768320	NM_001317950.2(AKNA):c.3153C>T (p.Ala1051=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328179	NM_001317950.2(AKNA):c.3046G>A (p.Ala1016Thr)	AKNA (A897T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790623	NM_001317950.2(AKNA):c.3018A>G (p.Ala1006=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2318506	NM_001317950.2(AKNA):c.2948A>G (p.Glu983Gly)	AKNA (E864G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457384	NM_001317950.2(AKNA):c.2893G>A (p.Asp965Asn)	AKNA (D965N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790624	NM_001317950.2(AKNA):c.2884G>A (p.Val962Met)	AKNA (V962M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358794	NM_001317950.2(AKNA):c.2824G>A (p.Glu942Lys)	AKNA (E823K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107241	NM_001317950.2(AKNA):c.2753C>T (p.Ala918Val)	AKNA (A799V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373211	NM_001317950.2(AKNA):c.2747G>T (p.Trp916Leu)	AKNA (W916L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471447	NM_001317950.2(AKNA):c.2722G>A (p.Gly908Ser)	AKNA (G789S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107230	NM_001317950.2(AKNA):c.2702A>G (p.Gln901Arg)	AKNA (Q901R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237666	NM_001317950.2(AKNA):c.2692C>T (p.Arg898Cys)	AKNA (R779C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361858	NM_001317950.2(AKNA):c.2650C>G (p.Gln884Glu)	AKNA (Q765E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222948	NM_001317950.2(AKNA):c.2608G>A (p.Val870Met)	AKNA (V751M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591119	NM_001317950.2(AKNA):c.2575G>A (p.Gly859Ser)	AKNA (G859S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203976	NM_001317950.2(AKNA):c.2557G>A (p.Gly853Arg)	AKNA (G853R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349978	NM_001317950.2(AKNA):c.2530G>C (p.Gly844Arg)	AKNA (G725R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353938	NM_001317950.2(AKNA):c.2527C>T (p.Pro843Ser)	AKNA (P724S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494238	NM_001317950.2(AKNA):c.2511G>A (p.Met837Ile)	AKNA (M718I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243977	NM_001317950.2(AKNA):c.2483C>T (p.Ala828Val)	AKNA (A828V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309779	NM_001317950.2(AKNA):c.2458G>A (p.Val820Met)	AKNA (V820M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361356	NM_001317950.2(AKNA):c.2337G>T (p.Glu779Asp)	AKNA (E660D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107190	NM_001317950.2(AKNA):c.2335G>A (p.Glu779Lys)	AKNA (E660K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107188	NM_001317950.2(AKNA):c.2306A>G (p.Lys769Arg)	AKNA (K769R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107186	NM_001317950.2(AKNA):c.2288A>G (p.Glu763Gly)	AKNA (E644G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461706	NM_001317950.2(AKNA):c.2246A>T (p.His749Leu)	AKNA (H630L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383360	NM_001317950.2(AKNA):c.2237G>A (p.Arg746Gln)	AKNA (R627Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546545	NM_001317950.2(AKNA):c.2227C>T (p.Pro743Ser)	AKNA (P624S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214688	NM_001317950.2(AKNA):c.2156G>T (p.Gly719Val)	AKNA (G600V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659445	NM_001317950.2(AKNA):c.2063C>T (p.Thr688Met)	AKNA (T569M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659446	NM_001317950.2(AKNA):c.2031C>T (p.Ser677=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347781	NM_001317950.2(AKNA):c.1993G>A (p.Glu665Lys)	AKNA (E546K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381039	NM_001317950.2(AKNA):c.1983G>C (p.Gln661His)	AKNA (Q542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107165	NM_001317950.2(AKNA):c.1954C>G (p.Leu652Val)	AKNA (L652V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107161	NM_001317950.2(AKNA):c.1952G>A (p.Cys651Tyr)	AKNA (C532Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357583	NM_001317950.2(AKNA):c.1940G>A (p.Arg647His)	AKNA (R647H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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