17[chr] AND 43000000:44000000[chrpos37] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 2647844	NM_001265577.2(KIF18B):c.1767T>C (p.Thr589=)	KIF18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647845	NM_001265577.2(KIF18B):c.877G>A (p.Asp293Asn)	KIF18B (D293N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550743	NM_006688.5(C1QL1):c.764T>C (p.Ile255Thr)	C1QL1 (I255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135721	NM_006688.5(C1QL1):c.676G>C (p.Ala226Pro)	C1QL1 (A226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613722	NM_006688.5(C1QL1):c.655A>G (p.Ser219Gly)	C1QL1 (S219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681680	NM_006688.5(C1QL1):c.415C>A (p.Pro139Thr)	C1QL1 (P139T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2385617	NM_006688.5(C1QL1):c.380T>G (p.Val127Gly)	C1QL1 (V127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262378	NM_006688.5(C1QL1):c.349G>T (p.Gly117Cys)	C1QL1 (G117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513354	NM_006688.5(C1QL1):c.344G>A (p.Gly115Asp)	C1QL1 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536931	NM_006688.5(C1QL1):c.338C>T (p.Ala113Val)	C1QL1 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135719	NM_006688.5(C1QL1):c.326G>A (p.Gly109Glu)	C1QL1 (G109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135718	NM_006688.5(C1QL1):c.316G>C (p.Gly106Arg)	C1QL1 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384176	NM_006688.5(C1QL1):c.256G>T (p.Asp86Tyr)	C1QL1 (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618840	NM_006688.5(C1QL1):c.226G>A (p.Gly76Ser)	C1QL1 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527172	NM_006688.5(C1QL1):c.196C>G (p.Gln66Glu)	C1QL1 (Q66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135717	NM_006688.5(C1QL1):c.179C>G (p.Pro60Arg)	C1QL1 (P60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262377	NM_006688.5(C1QL1):c.137C>T (p.Thr46Ile)	C1QL1 (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462239	NM_006688.5(C1QL1):c.124G>A (p.Ala42Thr)	C1QL1 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135720	NM_006688.5(C1QL1):c.53C>T (p.Pro18Leu)	C1QL1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243640	NM_001288655.2(DCAKD):c.641C>T (p.Ala214Val)	DCAKD (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383424	NM_001288655.2(DCAKD):c.640G>A (p.Ala214Thr)	DCAKD (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327774	NM_001288655.2(DCAKD):c.611C>T (p.Pro204Leu)	DCAKD (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080359	NM_001288655.2(DCAKD):c.592C>T (p.Arg198Cys)	DCAKD (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271016	NM_001288655.2(DCAKD):c.577C>T (p.His193Tyr)	DCAKD (H193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370757	NM_001288655.2(DCAKD):c.518G>A (p.Arg173His)	DCAKD (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353443	NM_001288655.2(DCAKD):c.455G>A (p.Arg152His)	DCAKD (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080358	NM_001288655.2(DCAKD):c.439C>T (p.Arg147Trp)	DCAKD (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235319	NM_001288655.2(DCAKD):c.427C>T (p.Arg143Trp)	DCAKD (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246647	NM_001288655.2(DCAKD):c.406G>A (p.Asp136Asn)	DCAKD (D136N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2473355	NM_001288655.2(DCAKD):c.400T>C (p.Tyr134His)	DCAKD (Y134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080357	NM_001288655.2(DCAKD):c.337G>A (p.Asp113Asn)	DCAKD (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509445	NM_001288655.2(DCAKD):c.328G>A (p.Val110Met)	DCAKD (V110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282706	NM_001288655.2(DCAKD):c.319T>C (p.Tyr107His)	DCAKD (Y107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397511	NM_001288655.2(DCAKD):c.311T>C (p.Leu104Pro)	DCAKD (L104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370813	NM_001288655.2(DCAKD):c.296C>T (p.Thr99Met)	DCAKD (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461455	NM_001288655.2(DCAKD):c.260C>T (p.Thr87Ile)	DCAKD (T87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509778	NM_001288655.2(DCAKD):c.239G>A (p.Arg80Gln)	DCAKD (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387900	NM_001288655.2(DCAKD):c.238C>T (p.Arg80Trp)	DCAKD (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291235	NM_001288655.2(DCAKD):c.187G>A (p.Asp63Asn)	DCAKD (D63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080355	NM_001288655.2(DCAKD):c.143G>A (p.Arg48His)	DCAKD (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080354	NM_001288655.2(DCAKD):c.140G>A (p.Arg47Gln)	DCAKD (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080353	NM_001288655.2(DCAKD):c.100A>G (p.Met34Val)	DCAKD (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271017	NM_001288655.2(DCAKD):c.97G>A (p.Val33Met)	DCAKD (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538577	NM_021079.5(NMT1):c.143C>T (p.Pro48Leu)	NMT1 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276102	NM_021079.5(NMT1):c.218C>T (p.Ser73Leu)	NMT1 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475409	NM_021079.5(NMT1):c.229C>A (p.Gln77Lys)	NMT1 (Q77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613093	NM_021079.5(NMT1):c.316G>T (p.Ala106Ser)	NMT1 (A106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393782	NM_021079.5(NMT1):c.605G>A (p.Arg202Gln)	NMT1 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274176	NM_021079.5(NMT1):c.871G>A (p.Val291Ile)	NMT1 (V291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474494	NM_021079.5(NMT1):c.995C>G (p.Thr332Ser)	NMT1 (T332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521306	NM_021079.5(NMT1):c.1006G>A (p.Ala336Thr)	NMT1 (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200846	NM_021079.5(NMT1):c.1061C>G (p.Thr354Ser)	NMT1 (T354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220336	NM_021079.5(NMT1):c.1088C>T (p.Thr363Met)	NMT1 (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373789	NM_021079.5(NMT1):c.1093G>A (p.Val365Ile)	NMT1 (V365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455982	NM_021079.5(NMT1):c.1205C>T (p.Thr402Met)	NMT1 (T402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300172	NM_021079.5(NMT1):c.1303A>T (p.Met435Leu)	NMT1 (M435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384624	NM_021079.5(NMT1):c.1405A>G (p.Ile469Val)	NMT1 (I469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214447	NM_133373.5(PLCD3):c.2318C>T (p.Ala773Val)	PLCD3 (A773V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461226	NM_133373.5(PLCD3):c.2233A>G (p.Asn745Asp)	PLCD3 (N745D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526551	NM_133373.5(PLCD3):c.2179C>T (p.Pro727Ser)	PLCD3 (P727S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307331	NM_133373.5(PLCD3):c.2134T>C (p.Phe712Leu)	PLCD3 (F712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510318	NM_133373.5(PLCD3):c.2087C>T (p.Pro696Leu)	PLCD3 (P696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214446	NM_133373.5(PLCD3):c.2076C>G (p.Ile692Met)	PLCD3 (I692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620244	NM_133373.5(PLCD3):c.1642A>G (p.Asn548Asp)	PLCD3 (N548D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386098	NM_133373.5(PLCD3):c.1616G>A (p.Arg539His)	PLCD3 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214443	NM_133373.5(PLCD3):c.1609G>A (p.Ala537Thr)	PLCD3 (A537T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214442	NM_133373.5(PLCD3):c.1586C>T (p.Ser529Leu)	PLCD3 (S529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214441	NM_133373.5(PLCD3):c.1555C>T (p.Arg519Trp)	PLCD3 (R519W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241089	NM_133373.5(PLCD3):c.1492C>T (p.Arg498Trp)	PLCD3 (R498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527181	NM_133373.5(PLCD3):c.1477C>T (p.Arg493Trp)	PLCD3 (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207411	NM_133373.5(PLCD3):c.1463G>A (p.Arg488Gln)	PLCD3 (R488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307335	NM_133373.5(PLCD3):c.1462C>T (p.Arg488Trp)	PLCD3 (R488W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280441	NM_133373.5(PLCD3):c.1330C>T (p.Arg444Cys)	PLCD3 (R444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307332	NM_133373.5(PLCD3):c.1252G>T (p.Ala418Ser)	PLCD3 (A418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597572	NM_133373.5(PLCD3):c.1240G>A (p.Val414Met)	PLCD3 (V414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335048	NM_133373.5(PLCD3):c.1215T>G (p.Ile405Met)	PLCD3 (I405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622064	NM_133373.5(PLCD3):c.1136G>A (p.Arg379His)	PLCD3 (R379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214440	NM_133373.5(PLCD3):c.1091C>G (p.Pro364Arg)	PLCD3 (P364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214439	NM_133373.5(PLCD3):c.1084G>A (p.Gly362Arg)	PLCD3 (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212166	NM_133373.5(PLCD3):c.1012G>A (p.Asp338Asn)	PLCD3 (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214454	NM_133373.5(PLCD3):c.963G>T (p.Leu321Phe)	PLCD3 (L321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307336	NM_133373.5(PLCD3):c.850G>A (p.Glu284Lys)	PLCD3 (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457943	NM_133373.5(PLCD3):c.817C>T (p.Pro273Ser)	PLCD3 (P273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604408	NM_133373.5(PLCD3):c.754A>G (p.Lys252Glu)	PLCD3 (K252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214452	NM_133373.5(PLCD3):c.710G>A (p.Arg237His)	PLCD3 (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307330	NM_133373.5(PLCD3):c.706G>A (p.Asp236Asn)	PLCD3 (D236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483797	NM_133373.5(PLCD3):c.638T>C (p.Met213Thr)	PLCD3 (M213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612350	NM_133373.5(PLCD3):c.503C>G (p.Thr168Ser)	PLCD3 (T168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214450	NM_133373.5(PLCD3):c.455T>A (p.Leu152Gln)	PLCD3 (L152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214449	NM_133373.5(PLCD3):c.395C>T (p.Ala132Val)	PLCD3 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316766	NM_133373.5(PLCD3):c.352C>A (p.Arg118Ser)	PLCD3 (R118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307334	NM_133373.5(PLCD3):c.331G>C (p.Val111Leu)	PLCD3 (V111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307329	NM_133373.5(PLCD3):c.310C>G (p.Pro104Ala)	PLCD3 (P104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206416	NM_133373.5(PLCD3):c.280G>C (p.Val94Leu)	PLCD3 (V94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214448	NM_133373.5(PLCD3):c.248G>A (p.Arg83Gln)	PLCD3 (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307825	NM_133373.5(PLCD3):c.247C>G (p.Arg83Gly)	PLCD3 (R83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214445	NM_133373.5(PLCD3):c.190G>A (p.Ala64Thr)	PLCD3 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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