ClinVar for Gene (Select 80709) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303515	NM_000608.4(ORM2):c.197T>A (p.Phe66Tyr)	AKNA, ORM2 (F66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303513	NM_000608.4(ORM2):c.529G>A (p.Asp177Asn)	AKNA, ORM2 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303512	NM_000608.4(ORM2):c.389T>C (p.Phe130Ser)	AKNA, ORM2 (F130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282544	NM_001317950.2(AKNA):c.2969A>C (p.Gln990Pro)	AKNA (Q990P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282535	NM_001317950.2(AKNA):c.3140C>T (p.Ala1047Val)	AKNA (A1047V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282526	NM_001317950.2(AKNA):c.3953C>T (p.Ser1318Leu)	AKNA (S1318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282516	NM_001317950.2(AKNA):c.3752A>T (p.Asp1251Val)	AKNA (D1132V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282505	NM_001317950.2(AKNA):c.1048G>A (p.Gly350Ser)	AKNA (G350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282494	NM_001317950.2(AKNA):c.3075G>C (p.Glu1025Asp)	AKNA (E906D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282465	NM_001317950.2(AKNA):c.1975A>G (p.Ile659Val)	AKNA (I659V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282456	NM_001317950.2(AKNA):c.3142C>G (p.Pro1048Ala)	AKNA (P929A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3107391	NM_001317950.2(AKNA):c.929G>A (p.Arg310Gln)	AKNA (R310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107389	NM_001317950.2(AKNA):c.793T>G (p.Ser265Ala)	AKNA (S146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107380	NM_001317950.2(AKNA):c.629A>G (p.His210Arg)	AKNA (H210R +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 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 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 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 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 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 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 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 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 3107154	NM_001317950.2(AKNA):c.1939C>T (p.Arg647Cys)	AKNA (R647C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107147	NM_001317950.2(AKNA):c.179G>T (p.Arg60Leu)	AKNA (R60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107133	NM_001317950.2(AKNA):c.1610C>T (p.Ser537Leu)	AKNA (S418L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107130	NM_001317950.2(AKNA):c.1602C>A (p.Ser534Arg)	AKNA (S534R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107123	NM_001317950.2(AKNA):c.1553C>G (p.Pro518Arg)	AKNA (P399R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107118	NM_001317950.2(AKNA):c.1535C>T (p.Pro512Leu)	AKNA (P393L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107114	NM_001317950.2(AKNA):c.1534C>G (p.Pro512Ala)	AKNA (P393A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107096	NM_001317950.2(AKNA):c.1285G>C (p.Val429Leu)	AKNA (V310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107092	NM_001317950.2(AKNA):c.1285G>A (p.Val429Ile)	AKNA (V310I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063112	GRCh37/hg19 9q32(chr9:117037819-117102046)x1	AKNA, COL27A1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2673187	NM_001317950.2(AKNA):c.1611G>C (p.Ser537=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659449	NM_001317950.2(AKNA):c.388G>A (p.Gly130Arg)	AKNA (G11R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659448	NM_001317950.2(AKNA):c.669C>T (p.Thr223=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659447	NM_001317950.2(AKNA):c.1025C>T (p.Ser342Phe)	AKNA (S223F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659446	NM_001317950.2(AKNA):c.2031C>T (p.Ser677=)	AKNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2659443	NM_000608.4(ORM2):c.405C>T (p.Asp135=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2605419	NM_001317950.2(AKNA):c.1152C>A (p.His384Gln)	AKNA (H265Q +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 2601472	NM_000608.4(ORM2):c.384G>C (p.Leu128Phe)	AKNA, ORM2 (L128F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599506	NM_001317950.2(AKNA):c.1463C>T (p.Thr488Met)	AKNA (T369M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 2566888	NM_001317950.2(AKNA):c.121T>A (p.Trp41Arg)	AKNA (W41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551922	NM_001317950.2(AKNA):c.1015G>A (p.Ala339Thr)	AKNA (A339T +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 2547215	NM_001317950.2(AKNA):c.1643C>T (p.Pro548Leu)	AKNA (P429L +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 2533444	NM_001317950.2(AKNA):c.767G>A (p.Arg256Gln)	AKNA (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519972	NM_001317950.2(AKNA):c.1879G>A (p.Gly627Ser)	AKNA (G508S +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 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 2492987	NM_001317950.2(AKNA):c.1534C>T (p.Pro512Ser)	AKNA (P393S +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 2485868	NM_000608.4(ORM2):c.187C>G (p.Gln63Glu)	AKNA, ORM2 (Q63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484085	NM_001317950.2(AKNA):c.383C>T (p.Thr128Ile)	AKNA (T128I +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 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 2464992	NM_000608.4(ORM2):c.596G>A (p.Gly199Glu)	AKNA, ORM2 (G199E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2408965	NM_001317950.2(AKNA):c.706C>T (p.Pro236Ser)	AKNA (P117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405657	NM_001317950.2(AKNA):c.989C>T (p.Pro330Leu)	AKNA (P211L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 2393300	NM_000608.4(ORM2):c.301C>T (p.Arg101Trp)	AKNA, ORM2 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387461	NM_001317950.2(AKNA):c.1150C>T (p.His384Tyr)	AKNA (H265Y +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 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 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 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 2370843	NM_001317950.2(AKNA):c.346C>T (p.Arg116Cys)	AKNA (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369465	NM_001317950.2(AKNA):c.674G>A (p.Gly225Asp)	AKNA (G225D +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 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 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 2357583	NM_001317950.2(AKNA):c.1940G>A (p.Arg647His)	AKNA (R647H +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 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 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 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 2343205	NM_001317950.2(AKNA):c.1034A>G (p.Asn345Ser)	AKNA (N226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341758	NM_001317950.2(AKNA):c.590C>T (p.Pro197Leu)	AKNA (P197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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