T to C substitution at nucleotide 434 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311748	NM_153339.3(PUSL1):c.434C>T (p.Pro145Leu)	PUSL1 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 213694	NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)	SKI (P434L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2473675	NM_005341.4(ZBTB48):c.434C>T (p.Pro145Leu)	ZBTB48 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307826	NM_023014.1(PRAMEF2):c.1300C>T (p.Arg434Trp)	PRAMEF2 (R434W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2934131	NM_003000.3(SDHB):c.434A>G (p.Asn145Ser)	SDHB (N145S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2239565	NM_000871.3(HTR6):c.1301C>T (p.Pro434Leu)	HTR6 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343560	NM_198137.2(CATSPER4):c.434T>C (p.Leu145Pro)	CATSPER4 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101169	NM_022078.3(GPATCH3):c.434T>C (p.Leu145Pro)	GPATCH3 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596292	NM_021969.3(NR0B2):c.434C>T (p.Ala145Val)	NR0B2, NUDC (A145V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3278377	NM_003665.4(FCN3):c.434G>A (p.Arg145His)	FCN3 (R145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170260	NM_005626.5(SRSF4):c.1301C>T (p.Ala434Val)	SRSF4 (A434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192221	NM_178547.5(ZBTB8OS):c.398C>T (p.Ser133Leu)	ZBTB8OS (S157L +8 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2226541	NM_178548.4(TFAP2E):c.1301C>T (p.Ser434Leu)	TFAP2E (S434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147818	NM_005202.4(COL8A2):c.1300C>T (p.Arg434Cys)	COL8A2 (R434C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280850	NM_017821.5(RHBDL2):c.434T>C (p.Val145Ala)	RHBDL2 (V145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182954	NM_017646.6(TRIT1):c.1301T>G (p.Val434Gly)	TRIT1 (V434G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 818851	NM_001048174.2(MUTYH):c.1217C>A (p.Thr406Lys)	MUTYH (T291K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127837	NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)	MUTYH (T434M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2612158	NM_001048174.2(MUTYH):c.1216A>C (p.Thr406Pro)	MUTYH (T291P +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1739929	NM_001048174.2(MUTYH):c.350T>C (p.Val117Ala)	MUTYH (V118A +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1463938	NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	MMACHC (I88T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 2485650	NM_001114938.3(CCDC17):c.1302G>T (p.Leu434Phe)	CCDC17 (L425F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279065	NM_004153.4(ORC1):c.434C>T (p.Pro145Leu)	ORC1 (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286101	NM_001198961.2(ECHDC2):c.434T>C (p.Leu145Pro)	ECHDC2 (L145P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354912	NM_001353655.3(CDCP2):c.1117+184C>T	CDCP2 (T434M)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2331067	NM_001017975.6(HFM1):c.1300A>G (p.Thr434Ala)	HFM1 (T434A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157844	NM_006513.4(SARS1):c.1301C>G (p.Thr434Ser)	LOC126805821, SARS1 (T434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326727	NM_024901.5(DENND2D):c.434G>T (p.Gly145Val)	DENND2D (G142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 465165	NM_001378969.1(KCND3):c.1519-5C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GConflicting classifications of pathogenicity
Select item 2490807	NM_015967.8(PTPN22):c.1301C>A (p.Ala434Glu)	AP4B1-AS1, PTPN22 (A379E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077965	NM_001007553.3(CSDE1):c.296G>A (p.Arg99Gln)	CSDE1 (R99Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329650	NM_005725.6(TSPAN2):c.434T>C (p.Phe145Ser)	TSPAN2 (F120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1433420	NM_001330677.2(TBX15):c.752T>C (p.Phe251Ser)	TBX15 (F145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2296887	NM_001385408.1(NBPF15):c.1302A>C (p.Glu434Asp)	NBPF15 (E397D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491845	NM_153713.3(LIX1L):c.434G>A (p.Gly145Glu)	LIX1L (G145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095917	NM_001461.4(FMO5):c.434T>C (p.Met145Thr)	CHD1L, FMO5 (M145T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 876243	NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile)	ADAMTSL4, ADAMTSL4-AS2 (T434I +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 2380294	NM_002016.2(FLG):c.434G>A (p.Arg145Lys)	CCDST, FLG (R145K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077667	NM_181715.3(CRTC2):c.1300C>A (p.Pro434Thr)	CRTC2 (P434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113985	NM_014949.4(KHDC4):c.1300C>T (p.Pro434Ser)	KHDC4 (P434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490353	NM_020131.5(UBQLN4):c.434C>T (p.Pro145Leu)	UBQLN4 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094212	NM_031282.3(FCRL4):c.1301G>T (p.Gly434Val)	FCRL4 (G434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457366	NM_001160325.2(OR6P1):c.434C>T (p.Ala145Val)	OR6P1 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261823	NM_001135050.2(IGSF9):c.1301G>A (p.Arg434Gln)	IGSF9 (R418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 486432	NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)	SDHC (I145T +7 more)	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +2 more	GUncertain significance
Select item 3278420	NM_032738.4(FCRLA):c.365C>T (p.Pro122Leu)	FCRLA (P128L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 293630	NM_000130.5(F5):c.1300G>A (p.Val434Met)	F5 (V434M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 3095896	NM_002022.3(FMO4):c.1301T>C (p.Met434Thr)	FMO4 (M434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342206	NM_000261.2(MYOC):c.1300G>A (p.Gly434Ser)	MYOC (G434S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2354091	NM_015569.5(DNM3):c.434T>C (p.Val145Ala)	DNM3 (V145A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165766	NM_178527.4(SLC9C2):c.1302G>T (p.Leu434Phe)	SLC9C2 (L434F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210548	NM_198493.3(ANKRD45):c.434G>A (p.Arg145Lys)	ANKRD45 (R145K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180498	NM_022093.2(TNN):c.1301C>T (p.Pro434Leu)	TNN (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551157	NM_001009992.1(ZNF648):c.1301A>G (p.Asn434Ser)	ZNF648 (N434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300252	NM_030933.4(SHCBP1L):c.1300A>C (p.Asn434His)	SHCBP1L (N434H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450588	NM_024529.5(CDC73):c.1300C>T (p.Leu434Phe)	CDC73 (L434F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2301197	NM_001304331.2(PPFIA4):c.1952C>A (p.Thr651Asn)	PPFIA4 (T642N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550125	NM_001005388.3(NFASC):c.1301C>T (p.Ser434Leu)	NFASC (S445L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559447	NM_002533.4(NVL):c.434A>G (p.Glu145Gly)	NVL (E145G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278195	NM_003395.4(WNT9A):c.434G>A (p.Arg145His)	WNT9A (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236209	NM_016102.4(TRIM17):c.1300G>T (p.Val434Leu)	TRIM17 (V434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395737	NM_032018.7(SPRTN):c.1301C>T (p.Pro434Leu)	SPRTN (P434L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1379638	NM_182972.3(IRF2BP2):c.1301A>G (p.Asn434Ser)	IRF2BP2 (N434S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92453	NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2284231	NM_001372062.1(PLD5):c.434A>G (p.Lys145Arg)	PLD5 (K53R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318184	NM_015677.4(SH3YL1):c.434G>A (p.Ser145Asn)	SH3YL1 (S145N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 477808	NM_000384.3(APOB):c.434C>T (p.Pro145Leu)	APOB (P145L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 3287071	NM_006277.3(ITSN2):c.1300A>G (p.Arg434Gly)	ITSN2 (R420G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558801	NM_018263.6(ASXL2):c.1300G>A (p.Glu434Lys)	ASXL2 (E174K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618773	NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp)	OTOF (G898D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095190	NM_021831.6(AGBL5):c.1300C>T (p.His434Tyr)	AGBL5 (H434Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 971921	NM_004304.5(ALK):c.1300A>G (p.Lys434Glu)	ALK (K434E)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 2550187	NM_000379.4(XDH):c.1300G>T (p.Val434Leu)	XDH (V434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 2236508	NM_025264.5(THUMPD2):c.1302T>A (p.Asp434Glu)	THUMPD2 (D200E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2625951	NM_022436.3(ABCG5):c.434G>A (p.Arg145His)	ABCG5 (R145H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2359862	NM_022437.3(ABCG8):c.434G>C (p.Arg145Thr)	ABCG8 (R145T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1769421	NM_001430.5(EPAS1):c.1301C>T (p.Pro434Leu)	EPAS1 (P434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 408505	NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)	MSH2 (I145T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2364259	NM_144582.3(TEX261):c.434C>T (p.Ser145Leu)	TEX261 (S145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206674	NM_006302.3(MOGS):c.434C>T (p.Pro145Leu)	MOGS (P145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335544	NM_022492.6(TTC31):c.1301C>T (p.Ser434Leu)	TTC31 (S279L +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393822	NM_178839.5(LRRTM1):c.1300G>A (p.Ala434Thr)	CTNNA2, LRRTM1 (A434T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161201	NM_001394463.1(SH2D6):c.914T>C (p.Met305Thr)	SH2D6 (M305T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181541	NM_015341.5(NCAPH):c.1300C>T (p.Arg434Trp)	NCAPH (R410W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289465	NM_001099289.3(SH3RF3):c.434C>T (p.Ala145Val)	RANBP2, SH3RF3 +1 more (A145V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160027	NM_144710.5(SEPTIN10):c.434A>G (p.Tyr145Cys)	RANBP2, SEPTIN10 (Y130C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3223994	NM_004336.5(BUB1):c.1301A>G (p.Asn434Ser)	BUB1 (N414S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1739922	NM_004336.5(BUB1):c.434C>T (p.Thr145Ile)	BUB1 (T125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307864	NM_152515.5(CKAP2L):c.1300A>C (p.Lys434Gln)	CKAP2L (K434Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109415	NM_012275.3(IL36RN):c.434C>T (p.Pro145Leu)	IL36RN (P145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211069	NM_014553.3(TFCP2L1):c.1301G>A (p.Arg434Gln)	TFCP2L1 (R434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262870	NM_000726.5(CACNB4):c.434G>A (p.Gly145Asp)	CACNB4 (G127D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108154	NM_022168.4(IFIH1):c.1301T>C (p.Leu434Ser)	IFIH1 (L434S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102218	NM_004490.3(GRB14):c.1301A>G (p.His434Arg)	GRB14 (H347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596465	NM_004490.3(GRB14):c.434A>G (p.Asp145Gly)	GRB14 (D145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 433099	NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	SCN9A, SCN1A-AS1 (G616R)	Single nucleotide variant (missense variant)	Primary erythromelalgia +6 more	GUncertain significance
Select item 522010	NM_001365536.1(SCN9A):c.434T>C (p.Met145Thr)	SCN9A (M145T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2522896	NM_002976.4(SCN7A):c.1300A>G (p.Ile434Val)	SCN7A (I434V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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