5-Nitro-2-furamideo-acetoxime - ClinVar - NCBI

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The following terms were not found in ClinVar: Nitro, furamideo, acetoxime.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316075	NM_001385641.1(SAMD11):c.856C>T (p.Leu286Phe)	SAMD11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1484814	NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser)	SAMD11 (T109S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1008984	NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu)	SAMD11 (R118L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2242101	NM_001385641.1(SAMD11):c.917G>A (p.Ser306Asn)	SAMD11 (S127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1909476	NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys)	SAMD11 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1365896	NM_001385641.1(SAMD11):c.959G>A (p.Arg320Gln)	SAMD11 (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2306661	NM_001385641.1(SAMD11):c.989T>C (p.Leu330Pro)	SAMD11 (L151P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157637	NM_001385641.1(SAMD11):c.998C>A (p.Ser333Tyr)	SAMD11 (S333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 857919	NM_001385641.1(SAMD11):c.1003C>T (p.Arg335Cys)	SAMD11 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2321337	NM_001385641.1(SAMD11):c.1027G>A (p.Glu343Lys)	SAMD11 (E343K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1045276	NM_001385641.1(SAMD11):c.1040G>A (p.Arg347Gln)	SAMD11 (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 946008	NM_001385641.1(SAMD11):c.1052C>T (p.Pro351Leu)	SAMD11 (P172L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2210454	NM_015658.4(NOC2L):c.596C>T (p.Thr199Met)	NOC2L (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250548	NM_015658.4(NOC2L):c.574G>A (p.Glu192Lys)	NOC2L (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616453	NM_015658.4(NOC2L):c.559G>A (p.Asp187Asn)	NOC2L (D187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200954	NM_015658.4(NOC2L):c.527C>T (p.Ala176Val)	NOC2L (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367333	NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys)	NOC2L (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288904	NM_198317.3(KLHL17):c.728C>G (p.Ser243Cys)	KLHL17 (S243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283849	NM_198317.3(KLHL17):c.737G>C (p.Ser246Thr)	KLHL17 (S246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616698	NM_198317.3(KLHL17):c.763G>A (p.Val255Ile)	KLHL17 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463671	NM_198317.3(KLHL17):c.770G>A (p.Arg257Gln)	KLHL17 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246810	NM_198317.3(KLHL17):c.792A>T (p.Lys264Asn)	KLHL17 (K264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225854	NM_198317.3(KLHL17):c.808C>T (p.Arg270Cys)	KLHL17 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378902	NM_198317.3(KLHL17):c.826C>T (p.Arg276Trp)	KLHL17 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307708	NM_032129.3(PLEKHN1):c.413G>A (p.Gly138Glu)	PLEKHN1 (G138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307705	NM_032129.3(PLEKHN1):c.422C>T (p.Pro141Leu)	PLEKHN1 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215180	NM_032129.3(PLEKHN1):c.451G>C (p.Glu151Gln)	PLEKHN1 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471734	NM_021170.4(HES4):c.14C>G (p.Thr5Arg)	HES4, LOC129929070 (T5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2477035	NM_198576.4(AGRN):c.785C>T (p.Ser262Leu)	AGRN (S157L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704003	NM_198576.4(AGRN):c.800C>T (p.Thr267Met)	AGRN (T162M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 2209568	NM_198576.4(AGRN):c.835G>A (p.Ala279Thr)	AGRN (A174T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2145034	NM_198576.4(AGRN):c.905C>G (p.Ala302Gly)	AGRN (A302G +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 843558	NM_198576.4(AGRN):c.905C>T (p.Ala302Val)	AGRN (A197V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2338956	NM_017891.5(C1orf159):c.401A>G (p.Lys134Arg)	C1orf159 (K170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236155	NM_017891.5(C1orf159):c.232G>A (p.Glu78Lys)	C1orf159 (E78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368185	NM_017891.5(C1orf159):c.109G>A (p.Val37Ile)	C1orf159 (V73I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240422	NM_017891.5(C1orf159):c.98A>C (p.Asp33Ala)	C1orf159 (D69A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256685	NM_017891.5(C1orf159):c.85G>A (p.Glu29Lys)	C1orf159 (E29K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184514	NM_001130045.2(TTLL10):c.133T>A (p.Ser45Thr)	TTLL10 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363117	NM_001130045.2(TTLL10):c.169C>T (p.Pro57Ser)	TTLL10 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559856	NM_001130045.2(TTLL10):c.692C>T (p.Thr231Ile)	TTLL10 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373946	NM_001130045.2(TTLL10):c.710G>A (p.Arg237Gln)	TTLL10 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511156	NM_001130045.2(TTLL10):c.742G>C (p.Gly248Arg)	TTLL10 (G248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511157	NM_001130045.2(TTLL10):c.743G>T (p.Gly248Val)	TTLL10 (G175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387098	NM_004195.3(TNFRSF18):c.13G>A (p.Gly5Arg)	TNFRSF18 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327526	NM_003327.4(TNFRSF4):c.628C>T (p.Pro210Ser)	TNFRSF4 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 657155	NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser)	TNFRSF4 (P202S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GUncertain significance
Select item 1395882	NM_003327.4(TNFRSF4):c.580G>T (p.Ala194Ser)	TNFRSF4 (A194S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GUncertain significance
Select item 2249279	NM_003327.4(TNFRSF4):c.551C>T (p.Ala184Val)	TNFRSF4 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394592	NM_003327.4(TNFRSF4):c.510C>A (p.Asp170Glu)	TNFRSF4 (D170E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 573043	NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)	TNFRSF4 (I165T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1435428	NM_003327.4(TNFRSF4):c.493A>T (p.Ile165Phe)	TNFRSF4 (I165F)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GUncertain significance
Select item 3327527	NM_003327.4(TNFRSF4):c.472G>C (p.Ala158Pro)	TNFRSF4 (A158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180289	NM_003327.4(TNFRSF4):c.439T>C (p.Cys147Arg)	TNFRSF4 (C147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158919	NM_016176.6(SDF4):c.877G>A (p.Ala293Thr)	SDF4 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533496	NM_016176.6(SDF4):c.865G>A (p.Gly289Ser)	SDF4 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158918	NM_016176.6(SDF4):c.799A>G (p.Ile267Val)	SDF4 (I267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374627	NM_016176.6(SDF4):c.798C>G (p.Asp266Glu)	SDF4 (D266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386961	NM_016176.6(SDF4):c.736C>T (p.Leu246Phe)	SDF4 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316815	NM_016176.6(SDF4):c.724G>A (p.Gly242Ser)	SDF4 (G242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60484	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	B3GALT6 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1518548	NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp)	B3GALT6 (R5W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1323967	NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs)	B3GALT6 (R68fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 1358020	NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)	B3GALT6	Duplication (inframe_insertion)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 421834	NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)	B3GALT6	Microsatellite (inframe_insertion)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GConflicting classifications of pathogenicity
Select item 1472063	NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)	B3GALT6	Microsatellite (inframe_insertion)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 3135762	NM_001014980.3(C1QTNF12):c.637G>A (p.Val213Met)	C1QTNF12 (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135761	NM_001014980.3(C1QTNF12):c.601G>A (p.Val201Met)	C1QTNF12 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262390	NM_001014980.3(C1QTNF12):c.586C>G (p.Arg196Gly)	C1QTNF12 (R196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135759	NM_001014980.3(C1QTNF12):c.581C>T (p.Ser194Leu)	C1QTNF12 (S194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135758	NM_001014980.3(C1QTNF12):c.565G>A (p.Gly189Ser)	C1QTNF12 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376110	NM_001130413.4(SCNN1D):c.352G>A (p.Glu118Lys)	SCNN1D (E118K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534551	NM_001130413.4(SCNN1D):c.391C>T (p.Pro131Ser)	SCNN1D (P131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316648	NM_001130413.4(SCNN1D):c.395C>T (p.Pro132Leu)	SCNN1D (P132L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218972	NM_001130413.4(SCNN1D):c.418T>C (p.Trp140Arg)	SCNN1D (W140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280131	NM_001130413.4(SCNN1D):c.437A>G (p.Gln146Arg)	SCNN1D (Q146R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393662	NM_001130413.4(SCNN1D):c.445G>T (p.Gly149Trp)	SCNN1D (G149W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624388	NM_030649.3(ACAP3):c.337G>A (p.Glu113Lys)	ACAP3 (E113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511154	NM_030649.3(ACAP3):c.5C>T (p.Thr2Ile)	ACAP3, LOC129929107 (T2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234696	NM_153339.3(PUSL1):c.619C>T (p.Pro207Ser)	PUSL1 (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506979	NM_017871.6(INTS11):c.1240C>T (p.His414Tyr)	INTS11 (H420Y +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
Select item 3286209	NM_017871.6(INTS11):c.514T>G (p.Ser172Ala)	INTS11 (S71A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110110	NM_017871.6(INTS11):c.472G>A (p.Val158Met)	INTS11 (V164M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507230	NM_017871.6(INTS11):c.470A>G (p.His157Arg)	INTS11 (H128R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2469162	NM_017871.6(INTS11):c.437A>G (p.Asp146Gly)	INTS11 (D117G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110109	NM_017871.6(INTS11):c.430G>A (p.Val144Ile)	INTS11 (V43I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506982	NM_017871.6(INTS11):c.163G>A (p.Gly55Ser)	INTS11 (G61S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
Select item 3324456	NM_152228.3(TAS1R3):c.1483C>T (p.Pro495Ser)	TAS1R3 (P495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410764	NM_152228.3(TAS1R3):c.1486G>A (p.Val496Met)	TAS1R3 (V496M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324455	NM_152228.3(TAS1R3):c.1492C>T (p.Arg498Trp)	TAS1R3 (R498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173996	NM_152228.3(TAS1R3):c.1496G>T (p.Cys499Phe)	TAS1R3 (C499F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324451	NM_152228.3(TAS1R3):c.1525C>A (p.Arg509Ser)	TAS1R3 (R509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509020	NM_152228.3(TAS1R3):c.1525C>T (p.Arg509Cys)	TAS1R3 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327061	NM_152228.3(TAS1R3):c.1529G>A (p.Arg510Gln)	TAS1R3 (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463023	NM_152228.3(TAS1R3):c.1558G>A (p.Asp520Asn)	TAS1R3 (D520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305847	NM_152228.3(TAS1R3):c.1562G>A (p.Cys521Tyr)	TAS1R3 (C521Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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