ClinVar for Gene (Select 7455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333789	NM_003386.3(ZAN):c.2555T>C (p.Ile852Thr)	ZAN (I852T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333788	NM_003386.3(ZAN):c.5101G>A (p.Asp1701Asn)	ZAN (D1701N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3333787	NM_003386.3(ZAN):c.4804G>A (p.Val1602Ile)	ZAN (V1602I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333785	NM_003386.3(ZAN):c.7099G>C (p.Gly2367Arg)	ZAN (G2367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333784	NM_003386.3(ZAN):c.2536C>T (p.Pro846Ser)	ZAN (P846S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333783	NM_003386.3(ZAN):c.428G>A (p.Arg143His)	ZAN (R143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333782	NM_003386.3(ZAN):c.4290C>G (p.Ser1430Arg)	ZAN (S1430R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333781	NM_003386.3(ZAN):c.6563G>A (p.Gly2188Glu)	ZAN (G2188E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333780	NM_003386.3(ZAN):c.7313C>T (p.Thr2438Ile)	ZAN (T2438I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333779	NM_003386.3(ZAN):c.4079A>T (p.Asp1360Val)	ZAN (D1360V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333778	NM_003386.3(ZAN):c.1225C>A (p.Pro409Thr)	ZAN (P409T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333777	NM_003386.3(ZAN):c.1513C>T (p.Pro505Ser)	ZAN (P505S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333776	NM_003386.3(ZAN):c.2023C>T (p.Pro675Ser)	ZAN (P675S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333773	NM_003386.3(ZAN):c.4956T>A (p.Phe1652Leu)	ZAN (F1652L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333772	NM_003386.3(ZAN):c.3667G>A (p.Val1223Ile)	ZAN (V1223I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3333771	NM_003386.3(ZAN):c.7264A>G (p.Asn2422Asp)	ZAN (N2422D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333770	NM_003386.3(ZAN):c.4975G>A (p.Asp1659Asn)	ZAN (D1659N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333769	NM_003386.3(ZAN):c.8282G>T (p.Gly2761Val)	ZAN (G2670V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333768	NM_003386.3(ZAN):c.6373C>T (p.Pro2125Ser)	ZAN (P2125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3191757	NM_003386.3(ZAN):c.912C>A (p.His304Gln)	ZAN (H304Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191756	NM_003386.3(ZAN):c.901G>T (p.Ala301Ser)	ZAN (A301S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191755	NM_003386.3(ZAN):c.89G>A (p.Arg30His)	ZAN (R30H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191753	NM_003386.3(ZAN):c.815A>G (p.Lys272Arg)	ZAN (K272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191752	NM_003386.3(ZAN):c.8131C>T (p.Pro2711Ser)	ZAN (P2620S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191751	NM_003386.3(ZAN):c.7247C>T (p.Ala2416Val)	ZAN (A2416V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191750	NM_003386.3(ZAN):c.6562G>C (p.Gly2188Arg)	ZAN (G2188R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191749	NM_003386.3(ZAN):c.6395C>T (p.Ala2132Val)	ZAN (A2132V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191747	NM_003386.3(ZAN):c.620T>C (p.Met207Thr)	ZAN (M207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191746	NM_003386.3(ZAN):c.5645G>A (p.Arg1882His)	ZAN (R1882H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191745	NM_003386.3(ZAN):c.5549G>A (p.Cys1850Tyr)	ZAN (C1850Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191744	NM_003386.3(ZAN):c.5422T>C (p.Cys1808Arg)	ZAN (C1808R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191743	NM_003386.3(ZAN):c.5305G>A (p.Val1769Met)	ZAN (V1769M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191742	NM_003386.3(ZAN):c.4709G>A (p.Arg1570Gln)	ZAN (R1570Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191741	NM_003386.3(ZAN):c.4601G>A (p.Cys1534Tyr)	ZAN (C1534Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191740	NM_003386.3(ZAN):c.4513G>A (p.Val1505Ile)	ZAN (V1505I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191739	NM_003386.3(ZAN):c.4480C>T (p.Arg1494Trp)	ZAN (R1494W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191738	NM_003386.3(ZAN):c.4399G>A (p.Val1467Ile)	ZAN (V1467I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191737	NM_003386.3(ZAN):c.4391C>T (p.Pro1464Leu)	ZAN (P1464L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191736	NM_003386.3(ZAN):c.427C>T (p.Arg143Cys)	ZAN (R143C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191735	NM_003386.3(ZAN):c.4274C>A (p.Ala1425Asp)	ZAN (A1425D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191734	NM_003386.3(ZAN):c.4186T>C (p.Cys1396Arg)	ZAN (C1396R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191733	NM_003386.3(ZAN):c.4168G>A (p.Gly1390Arg)	ZAN (G1390R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191732	NM_003386.3(ZAN):c.4159G>A (p.Gly1387Arg)	ZAN (G1387R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191731	NM_003386.3(ZAN):c.4060T>A (p.Phe1354Ile)	ZAN (F1354I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191730	NM_003386.3(ZAN):c.3764G>A (p.Arg1255Gln)	ZAN (R1255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191729	NM_003386.3(ZAN):c.3730C>T (p.Pro1244Ser)	ZAN (P1244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191728	NM_003386.3(ZAN):c.3626C>T (p.Ser1209Phe)	ZAN (S1209F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191727	NM_003386.3(ZAN):c.337G>A (p.Gly113Ser)	ZAN (G113S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191725	NM_003386.3(ZAN):c.2923A>G (p.Lys975Glu)	ZAN (K975E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191724	NM_003386.3(ZAN):c.278C>T (p.Ser93Leu)	ZAN (S93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191723	NM_003386.3(ZAN):c.2582C>A (p.Thr861Lys)	ZAN (T861K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191722	NM_003386.3(ZAN):c.2255C>T (p.Pro752Leu)	ZAN (P752L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191721	NM_003386.3(ZAN):c.2050A>G (p.Ile684Val)	ZAN (I684V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191720	NM_003386.3(ZAN):c.2049C>G (p.Ser683Arg)	ZAN (S683R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191719	NM_003386.3(ZAN):c.1842G>A (p.Met614Ile)	ZAN (M614I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191718	NM_003386.3(ZAN):c.1553C>T (p.Thr518Met)	ZAN (T518M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191717	NM_003386.3(ZAN):c.1235G>T (p.Gly412Val)	ZAN (G412V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191716	NM_003386.3(ZAN):c.1192G>A (p.Gly398Arg)	ZAN (G398R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191714	NM_003386.3(ZAN):c.1010T>A (p.Val337Glu)	ZAN (V337E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191713	NM_003386.3(ZAN):c.1007C>G (p.Ala336Gly)	ZAN (A336G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2673118	NM_003386.3(ZAN):c.7768C>T (p.Arg2590Cys)	ZAN (R2590C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2673117	NM_003386.3(ZAN):c.6596C>G (p.Pro2199Arg)	ZAN (P2199R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657772	NM_003386.3(ZAN):c.6431C>T (p.Ala2144Val)	ZAN (A2144V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657771	NM_003386.3(ZAN):c.2514C>A (p.Ile838=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2657770	NM_003386.3(ZAN):c.2361C>T (p.Pro787=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657769	NM_003386.3(ZAN):c.2358A>G (p.Lys786=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657768	NM_003386.3(ZAN):c.1638T>C (p.Ser546=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657767	NM_003386.3(ZAN):c.1278C>T (p.Asp426=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657766	NM_003386.3(ZAN):c.1134C>T (p.Asn378=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657765	NM_003386.3(ZAN):c.1103-4C>G	ZAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657764	NM_003386.3(ZAN):c.681T>A (p.Thr227=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617430	NM_003386.3(ZAN):c.1033G>A (p.Val345Ile)	ZAN (V345I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611913	NM_003386.3(ZAN):c.2153C>A (p.Thr718Asn)	ZAN (T718N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611801	NM_003386.3(ZAN):c.2996C>A (p.Ala999Asp)	ZAN (A999D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610116	NM_003386.3(ZAN):c.51C>A (p.Phe17Leu)	ZAN (F17L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610115	NM_003386.3(ZAN):c.50T>A (p.Phe17Tyr)	ZAN (F17Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607408	NM_003386.3(ZAN):c.3919G>A (p.Gly1307Ser)	ZAN (G1307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593885	NM_003386.3(ZAN):c.3281A>G (p.Asn1094Ser)	ZAN (N1094S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569762	NM_003386.3(ZAN):c.1982C>T (p.Pro661Leu)	ZAN (P661L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562982	NM_003386.3(ZAN):c.5209G>A (p.Ala1737Thr)	ZAN (A1737T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2562442	NM_003386.3(ZAN):c.5350C>T (p.Arg1784Cys)	ZAN (R1784C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554860	NM_003386.3(ZAN):c.5396C>A (p.Ala1799Asp)	ZAN (A1799D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551726	NM_003386.3(ZAN):c.3398G>A (p.Gly1133Glu)	ZAN (G1133E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540859	NM_003386.3(ZAN):c.3796C>T (p.Arg1266Trp)	ZAN (R1266W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534107	NM_003386.3(ZAN):c.425G>A (p.Gly142Asp)	ZAN (G142D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531675	NM_003386.3(ZAN):c.1532A>C (p.Lys511Thr)	ZAN (K511T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531560	NM_003386.3(ZAN):c.2431T>C (p.Ser811Pro)	ZAN (S811P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531065	NM_003386.3(ZAN):c.5729C>T (p.Pro1910Leu)	ZAN (P1910L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527744	NM_003386.3(ZAN):c.4825C>A (p.Leu1609Ile)	ZAN (L1609I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523863	NM_003386.3(ZAN):c.4135G>C (p.Asp1379His)	ZAN (D1379H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517136	NM_003386.3(ZAN):c.4255C>A (p.Pro1419Thr)	ZAN (P1419T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513415	NM_003386.3(ZAN):c.2156T>A (p.Ile719Asn)	ZAN (I719N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513350	NM_003386.3(ZAN):c.3269C>T (p.Ala1090Val)	ZAN (A1090V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494792	NM_003386.3(ZAN):c.3166C>A (p.Pro1056Thr)	ZAN (P1056T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490112	NM_003386.3(ZAN):c.4252G>A (p.Glu1418Lys)	ZAN (E1418K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487521	NM_003386.3(ZAN):c.4565A>C (p.Gln1522Pro)	ZAN (Q1522P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478981	NM_003386.3(ZAN):c.713G>C (p.Gly238Ala)	ZAN (G238A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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