1,5-Diphenylpenta-1,4-diene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 155997

<< First< Prev

Page of 1560

The following terms were not found in ClinVar: Diphenylpenta, diene.

	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 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 2471734	NM_021170.4(HES4):c.14C>G (p.Thr5Arg)	HES4, LOC129929070 (T5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 915424	NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del)	ISG15	Deletion (inframe_deletion)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2085710	NM_005101.4(ISG15):c.285del (p.Tyr96fs)	ISG15 (Y96fs)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 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)	Inborn genetic diseases +3 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 1944125	NM_198576.4(AGRN):c.952+1_952+3del	AGRN	Microsatellite (splice donor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1493175	NM_198576.4(AGRN):c.952+6C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1348245	NM_198576.4(AGRN):c.952+6C>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2045579	NM_198576.4(AGRN):c.953-3C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1499597	NM_198576.4(AGRN):c.4779_4793dup (p.Gln1593_Cys1597dup)	AGRN	Duplication (inframe_insertion)	Congenital myasthenic syndrome 8	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 1956267	NM_003327.4(TNFRSF4):c.635-3C>T	TNFRSF4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 941602	NM_003327.4(TNFRSF4):c.634+8C>T	TNFRSF4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 2751129	NM_003327.4(TNFRSF4):c.634+5G>C	TNFRSF4	Single nucleotide variant (intron variant)	Combined immunodeficiency due to OX40 deficiency	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)	not specified +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 403556	NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=)	TNFRSF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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)	Combined immunodeficiency due to OX40 deficiency +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 942872	NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp)	TNFRSF4 (A5D)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 60484	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	B3GALT6 (M1V)	Single nucleotide variant (missense variant +1 more)	B3GALT6-related disorder +3 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1358020	NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)	B3GALT6	Duplication (inframe_insertion)	Spondyloepimetaphyseal dysplasia with joint laxity +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)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	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 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 2222343	NM_032348.4(MXRA8):c.940C>G (p.Pro314Ala)	MXRA8 (P213A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320719	NM_032348.4(MXRA8):c.919G>C (p.Gly307Arg)	MXRA8 (G206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390392	NM_032348.4(MXRA8):c.673C>T (p.Leu225Phe)	MXRA8 (L225F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328474	NM_032348.4(MXRA8):c.533G>C (p.Arg178Pro)	MXRA8 (R178P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255152	NM_032348.4(MXRA8):c.515A>T (p.Glu172Val)	MXRA8 (E172V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387992	NM_032348.4(MXRA8):c.511A>G (p.Lys171Glu)	MXRA8 (K162E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375972	NM_032348.4(MXRA8):c.505G>T (p.Gly169Cys)	MXRA8 (G169C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344524	NM_032348.4(MXRA8):c.5C>T (p.Ala2Val)	MXRA8 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543847	NM_017971.4(MRPL20):c.13A>G (p.Thr5Ala)	MRPL20 (T5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031419	NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	VWA1-related disorder	GLikely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	VWA1 (G21fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related disorder	GLikely pathogenic
Select item 830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	VWA1 (E85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3065995	NM_022834.5(VWA1):c.462del (p.Met155fs)	VWA1 (M155fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GPathogenic
Select item 830328	NM_022834.5(VWA1):c.879del (p.Arg293fs)	VWA1 (R293fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GPathogenic/Likely pathogenic
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2243359	NM_001290264.2(SLC35E2B):c.701T>C (p.Met234Thr)	SLC35E2B (M234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319602	NM_001290264.2(SLC35E2B):c.623G>A (p.Gly208Asp)	SLC35E2B (G208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 915402	NM_024011.4(CDK11A):c.740G>A (p.Arg247Gln)	CDK11A (R237Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2494183	NM_024011.4(CDK11A):c.587C>T (p.Ala196Val)	CDK11A (A195V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355537	NM_024011.4(CDK11A):c.583C>T (p.Arg195Trp)	CDK11A (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286784	NM_024011.4(CDK11A):c.546G>C (p.Gln182His)	CDK11A (Q172H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306683	NM_024011.4(CDK11A):c.539G>A (p.Arg180Gln)	CDK11A (R179Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141466	NM_024011.4(CDK11A):c.462G>T (p.Met154Ile)	CDK11A (M154I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141465	NM_024011.4(CDK11A):c.391C>T (p.Arg131Cys)	CDK11A (R131C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265408	NM_024011.4(CDK11A):c.388G>A (p.Glu130Lys)	CDK11A (E120K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141464	NM_024011.4(CDK11A):c.359A>C (p.Lys120Thr)	CDK11A (K110T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164383	NR_173244.1(SLC35E2A):n.1201G>A	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3164382	NR_173244.1(SLC35E2A):n.1168C>T	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3164381	NR_173244.1(SLC35E2A):n.1131C>T	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3164380	NR_173244.1(SLC35E2A):n.1112G>C	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2607844	NM_023018.5(NADK):c.264-1794C>T	NADK (T191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345529	NM_023018.5(NADK):c.264-1858G>A	NADK (A170T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173141	NM_023018.5(NADK):c.264-1860C>G	NADK (A169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173139	NM_023018.5(NADK):c.264-1861G>A	NADK (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350314	NM_023018.5(NADK):c.264-1869T>C	NADK (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595135	NM_023018.5(NADK):c.264-1915G>A	NADK (E151K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357352	NM_023018.5(NADK):c.263+2165G>A	NADK (V127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173124	NM_023018.5(NADK):c.263+2126G>A	NADK (G114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1315579	NM_002074.5(GNB1):c.917-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1050582	NM_002074.5(GNB1):c.916+5G>A	GNB1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign

<< First< Prev

Page of 1560