ClinVar for Gene (Select 256329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290973	NM_173573.3(LMNTD2):c.29G>A (p.Arg10His)	LMNTD2 (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290972	NM_173573.3(LMNTD2):c.1816C>G (p.Leu606Val)	LMNTD2 (L606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290971	NM_173573.3(LMNTD2):c.126C>A (p.His42Gln)	LMNTD2 (H42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290970	NM_173573.3(LMNTD2):c.886G>C (p.Val296Leu)	LMNTD2 (V296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290969	NM_173573.3(LMNTD2):c.1363A>G (p.Ser455Gly)	LMNTD2 (S455G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244779	NC_000011.9:g.(?_532636)_(644674_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3119347	NM_173573.3(LMNTD2):c.911G>A (p.Arg304Gln)	LMNTD2 (R304Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119346	NM_173573.3(LMNTD2):c.821A>G (p.Asn274Ser)	LMNTD2 (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119345	NM_173573.3(LMNTD2):c.763G>C (p.Gly255Arg)	LMNTD2 (G255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119344	NM_173573.3(LMNTD2):c.661G>A (p.Ala221Thr)	LMNTD2 (A221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119343	NM_173573.3(LMNTD2):c.579G>T (p.Met193Ile)	LMNTD2 (M193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119342	NM_173573.3(LMNTD2):c.516G>T (p.Trp172Cys)	LMNTD2 (W172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119341	NM_173573.3(LMNTD2):c.49A>C (p.Ser17Arg)	LMNTD2 (S17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119340	NM_173573.3(LMNTD2):c.497A>G (p.Gln166Arg)	LMNTD2 (Q166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119339	NM_173573.3(LMNTD2):c.389G>A (p.Arg130Gln)	LMNTD2 (R130Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119338	NM_173573.3(LMNTD2):c.31C>T (p.Arg11Trp)	LMNTD2 (R11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119337	NM_173573.3(LMNTD2):c.194G>A (p.Arg65Gln)	LMNTD2 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119336	NM_173573.3(LMNTD2):c.1886A>T (p.Asp629Val)	LMNTD2 (D629V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119335	NM_173573.3(LMNTD2):c.1874C>T (p.Pro625Leu)	LMNTD2 (P625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119334	NM_173573.3(LMNTD2):c.1790T>C (p.Val597Ala)	LMNTD2 (V597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119333	NM_173573.3(LMNTD2):c.1606G>C (p.Gly536Arg)	LMNTD2 (G536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119332	NM_173573.3(LMNTD2):c.1580G>C (p.Arg527Pro)	LMNTD2 (R527P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119331	NM_173573.3(LMNTD2):c.1543C>T (p.Arg515Trp)	LMNTD2 (R515W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119330	NM_173573.3(LMNTD2):c.1498C>A (p.Arg500Ser)	LMNTD2 (R500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119329	NM_173573.3(LMNTD2):c.1432G>A (p.Ala478Thr)	LMNTD2 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119328	NM_173573.3(LMNTD2):c.1352C>T (p.Thr451Met)	LMNTD2 (T451M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119327	NM_173573.3(LMNTD2):c.1168A>T (p.Met390Leu)	LMNTD2 (M390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119326	NM_173573.3(LMNTD2):c.1136C>T (p.Pro379Leu)	LMNTD2 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119325	NM_173573.3(LMNTD2):c.1071G>C (p.Gln357His)	LMNTD2 (Q357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641073	NM_173573.3(LMNTD2):c.1206C>T (p.Arg402=)	LMNTD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641072	NM_173573.3(LMNTD2):c.1374C>T (p.Gly458=)	LMNTD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2641071	NM_173573.3(LMNTD2):c.1473T>G (p.Pro491=)	LMNTD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2641070	NM_173573.3(LMNTD2):c.1761A>G (p.Glu587=)	LMNTD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604590	NM_173573.3(LMNTD2):c.454A>G (p.Met152Val)	LMNTD2 (M152V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603283	NM_173573.3(LMNTD2):c.1111G>A (p.Glu371Lys)	LMNTD2 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598773	NM_173573.3(LMNTD2):c.178G>A (p.Asp60Asn)	LMNTD2 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598288	NM_173573.3(LMNTD2):c.1624C>T (p.Arg542Trp)	LMNTD2 (R542W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590345	NM_173573.3(LMNTD2):c.640G>A (p.Asp214Asn)	LMNTD2 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2553784	NM_173573.3(LMNTD2):c.1307C>T (p.Ser436Leu)	LMNTD2 (S436L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546494	NM_173573.3(LMNTD2):c.911G>T (p.Arg304Leu)	LMNTD2 (R304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541146	NM_173573.3(LMNTD2):c.1156G>T (p.Asp386Tyr)	LMNTD2 (D386Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536966	NM_173573.3(LMNTD2):c.1330C>T (p.Leu444Phe)	LMNTD2 (L444F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531733	NM_173573.3(LMNTD2):c.151G>A (p.Asp51Asn)	LMNTD2 (D51N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527949	NM_173573.3(LMNTD2):c.1498C>T (p.Arg500Cys)	LMNTD2 (R500C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524760	NM_173573.3(LMNTD2):c.560T>G (p.Val187Gly)	LMNTD2 (V187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522532	NM_173573.3(LMNTD2):c.1594C>G (p.Pro532Ala)	LMNTD2 (P532A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518048	NM_173573.3(LMNTD2):c.262G>A (p.Ala88Thr)	LMNTD2 (A88T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516629	NM_173573.3(LMNTD2):c.505C>T (p.Arg169Cys)	LMNTD2 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2487607	NM_173573.3(LMNTD2):c.668G>T (p.Arg223Leu)	LMNTD2 (R223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470865	NM_173573.3(LMNTD2):c.920G>A (p.Arg307His)	LMNTD2 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468661	NM_173573.3(LMNTD2):c.775G>C (p.Glu259Gln)	LMNTD2 (E259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458768	NM_173573.3(LMNTD2):c.1606G>A (p.Gly536Arg)	LMNTD2 (G536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456207	NM_173573.3(LMNTD2):c.523C>T (p.Arg175Cys)	LMNTD2 (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 2405747	NM_173573.3(LMNTD2):c.76G>A (p.Ala26Thr)	LMNTD2 (A26T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400639	NM_173573.3(LMNTD2):c.1709C>T (p.Ser570Leu)	LMNTD2 (S570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399736	NM_173573.3(LMNTD2):c.880T>G (p.Ser294Ala)	LMNTD2 (S294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398993	NM_173573.3(LMNTD2):c.1415C>T (p.Pro472Leu)	LMNTD2 (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398513	NM_173573.3(LMNTD2):c.871G>T (p.Gly291Cys)	LMNTD2 (G291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398039	NM_173573.3(LMNTD2):c.1265G>A (p.Gly422Asp)	LMNTD2 (G422D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382051	NM_173573.3(LMNTD2):c.1145A>C (p.Glu382Ala)	LMNTD2 (E382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380707	NM_173573.3(LMNTD2):c.212G>C (p.Arg71Pro)	LMNTD2 (R71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380159	NM_173573.3(LMNTD2):c.545G>A (p.Gly182Asp)	LMNTD2 (G182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371385	NM_173573.3(LMNTD2):c.421C>T (p.Arg141Trp)	LMNTD2 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359672	NM_173573.3(LMNTD2):c.563C>T (p.Thr188Met)	LMNTD2 (T188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322349	NM_173573.3(LMNTD2):c.1148G>C (p.Ser383Thr)	LMNTD2 (S383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315962	NM_173573.3(LMNTD2):c.1541T>C (p.Val514Ala)	LMNTD2 (V514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275317	NM_173573.3(LMNTD2):c.1121T>C (p.Val374Ala)	LMNTD2 (V374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269552	NM_173573.3(LMNTD2):c.1366C>G (p.Pro456Ala)	LMNTD2 (P456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259739	NM_173573.3(LMNTD2):c.317C>G (p.Ser106Cys)	LMNTD2 (S106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252429	NM_173573.3(LMNTD2):c.952G>A (p.Gly318Ser)	LMNTD2 (G318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249668	NM_173573.3(LMNTD2):c.647A>G (p.Asp216Gly)	LMNTD2 (D216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248705	NM_173573.3(LMNTD2):c.1874C>G (p.Pro625Arg)	LMNTD2 (P625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219631	NM_173573.3(LMNTD2):c.236G>A (p.Arg79Gln)	LMNTD2 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212614	NM_173573.3(LMNTD2):c.1579C>T (p.Arg527Trp)	LMNTD2 (R527W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208385	NM_173573.3(LMNTD2):c.1724C>G (p.Ala575Gly)	LMNTD2 (A575G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205178	NM_173573.3(LMNTD2):c.524G>T (p.Arg175Leu)	LMNTD2 (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1443721	NC_000011.9:g.(?_532636)_(695047_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 830507	NC_000011.10:g.(?_532616)_(795026_?)dup	CDHR5, CEND1 +17 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic

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