808 T-->C - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2545545	NM_001039500.3(VWA5B1):c.2423T>C (p.Val808Ala)	VWA5B1 (V703A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2841346	NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)	CSF3R (E808G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2151874	NM_004153.4(ORC1):c.2422A>G (p.Met808Val)	ORC1 (M803V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281589	NM_001367484.1(GLIS1):c.1333A>G (p.Ser445Gly)	GLIS1 (S445G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2182289	NM_001085487.3(MYSM1):c.2423A>G (p.Asn808Ser)	MYSM1 (N808S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2537433	NM_006536.7(CLCA2):c.808T>C (p.Cys270Arg)	CLCA2 (C270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291321	NM_014813.3(LRIG2):c.2423T>C (p.Ile808Thr)	LRIG2 (I705T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761929	NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)	CASQ2 (I270V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2846654	NM_001205293.3(CACNA1E):c.2423T>C (p.Leu808Pro)	CACNA1E (L789P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3197609	NM_001142572.2(ZNF669):c.550A>G (p.Arg184Gly)	ZNF669 (R270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1391141	NM_004304.5(ALK):c.2423A>G (p.Asn808Ser)	ALK (N808S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 2134360	NM_000179.3(MSH6):c.2423T>C (p.Val808Ala)	MSH6 (V678A +8 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2609843	NM_014497.5(ZNF638):c.2422T>C (p.Ser808Pro)	ZNF638 (S808P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2451219	NM_004336.5(BUB1):c.2423A>G (p.Asp808Gly)	BUB1 (D808G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607030	NM_005915.6(MCM6):c.2423A>G (p.Asp808Gly)	MCM6 (D808G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1404424	NM_004525.3(LRP2):c.2422A>G (p.Ile808Val)	LRP2 (I808V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 391833	NM_000393.5(COL5A2):c.1A>G (p.Met1Val)	COL5A2 (M1V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GUncertain significance
Select item 1761930	NM_005896.4(IDH1):c.808A>G (p.Lys270Glu)	IDH1 (K270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305478	NM_024080.5(TRPM8):c.2422T>C (p.Tyr808His)	TRPM8 (Y413H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689458	NM_001077525.3(MTMR14):c.808T>C (p.Phe270Leu)	MTMR14 (F176L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2347146	NM_173659.5(RPUSD3):c.784A>G (p.Thr262Ala)	RPUSD3 (T262A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263120	NM_001162499.2(CAND2):c.2423T>C (p.Val808Ala)	CAND2 (V715A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381589	NM_014517.5(UBP1):c.808A>G (p.Ile270Val)	FBXL2, UBP1 (I270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216920	NM_001607.4(ACAA1):c.808A>G (p.Thr270Ala)	ACAA1 (T270A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 590945	NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro)	TRAK1 (L329P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 68	GUncertain significance
Select item 1032372	NM_005879.3(TRAIP):c.182A>G (p.Lys61Arg)	TRAIP (K61R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1046612	NM_144499.3(GNAT1):c.808T>C (p.Phe270Leu)	GNAT1 (F270L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1154900	NM_001184.4(ATR):c.7899A>G (p.Leu2633=)	ATR	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 698643	NM_001184.4(ATR):c.7800A>G (p.Gln2600=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1113589	NM_001184.4(ATR):c.7662A>G (p.Leu2554=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1598468	NM_001184.4(ATR):c.7617A>G (p.Thr2539=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1330643	NM_001184.4(ATR):c.7504-16A>G	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GBenign/Likely benign
Select item 1448387	NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser)	ATR (N2496S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 931291	NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)	ATR (I2470V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GUncertain significance
Select item 1657877	NM_001184.4(ATR):c.7192+19A>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1 +2 more	GBenign/Likely benign
Select item 1112754	NM_001184.4(ATR):c.7179A>G (p.Leu2393=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1657863	NM_001184.4(ATR):c.7077A>G (p.Glu2359=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 722011	NM_001184.4(ATR):c.6903A>G (p.Glu2301=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1008084	NM_001184.4(ATR):c.6877A>G (p.Ile2293Val)	ATR (I2229V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1080169	NM_001184.4(ATR):c.6855A>G (p.Pro2285=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 509587	NM_001184.4(ATR):c.6813A>G (p.Pro2271=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1077200	NM_001184.4(ATR):c.6786A>G (p.Leu2262=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 901548	NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp)	ATR (N2135D +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GUncertain significance
Select item 1063193	NM_001184.4(ATR):c.6376A>G (p.Ile2126Val)	ATR (I2062V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1450081	NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg)	ATR (Q2050R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 157999	NM_001184.4(ATR):c.6339A>G (p.Val2113=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GBenign/Likely benign
Select item 1124837	NM_001184.4(ATR):c.6279A>G (p.Leu2093=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 343586	NM_001184.4(ATR):c.6259A>G (p.Met2087Val)	ATR (M2087V +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +1 more	GUncertain significance
Select item 1103292	NM_001184.4(ATR):c.6183A>G (p.Gln2061=)	ATR, LOC126806830	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1520769	NM_001184.4(ATR):c.5996A>G (p.His1999Arg)	ATR (H1999R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 382221	NM_001184.4(ATR):c.5931A>G (p.Gln1977=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more	GLikely benign
Select item 157994	NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser)	ATR (N1911S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1128437	NM_001184.4(ATR):c.5484A>G (p.Ala1828=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1109505	NM_001184.4(ATR):c.5421A>G (p.Leu1807=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1008314	NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)	ATR (D1704G +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 434450	NM_001184.4(ATR):c.5257A>G (p.Ile1753Val)	ATR (I1753V +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1134990	NM_001184.4(ATR):c.5217A>G (p.Val1739=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 701165	NM_001184.4(ATR):c.5094A>G (p.Ala1698=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1630641	NM_001184.4(ATR):c.4950A>G (p.Ala1650=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 157989	NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser)	ATR (N1612S +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign
Select item 1582578	NM_001184.4(ATR):c.4809A>G (p.Lys1603=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +3 more	GLikely benign
Select item 1091683	NM_001184.4(ATR):c.4662A>G (p.Ala1554=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 157988	NM_001184.4(ATR):c.4641+9A>G	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign/Likely benign
Select item 903547	NM_001184.4(ATR):c.4592A>G (p.His1531Arg)	ATR (H1531R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 434455	NM_001184.4(ATR):c.4576A>G (p.Ile1526Val)	ATR (I1526V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 903548	NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys)	ATR (Y1433C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389064	NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)	ATR (T1469A +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GUncertain significance
Select item 388203	NM_001184.4(ATR):c.4376A>G (p.Asn1459Ser)	ATR (N1459S +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 507420	NM_001184.4(ATR):c.4356A>G (p.Glu1452=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +4 more	GLikely benign
Select item 343606	NM_001184.4(ATR):c.4323A>G (p.Gln1441=)	ATR	Single nucleotide variant (synonymous variant)	Seckel syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1593243	NM_001184.4(ATR):c.4314A>G (p.Pro1438=)	ATR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 157984	NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp)	ATR (N1436D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 995687	NM_001184.4(ATR):c.4267-12A>G	ATR	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1054150	NM_001184.4(ATR):c.4130A>G (p.Gln1377Arg)	ATR (Q1313R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1448129	NM_001184.4(ATR):c.3955A>G (p.Ile1319Val)	ATR (I1255V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 899948	NM_001184.4(ATR):c.3820-4A>G	ATR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1543051	NM_001184.4(ATR):c.3765A>G (p.Leu1255=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 157978	NM_001184.4(ATR):c.3725+18A>G	ATR	Single nucleotide variant (intron variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more	GBenign/Likely benign
Select item 899949	NM_001184.4(ATR):c.3646A>G (p.Ile1216Val)	ATR (I1152V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1346820	NM_001184.4(ATR):c.3611A>G (p.Asp1204Gly)	ATR (D1140G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1007549	NM_001184.4(ATR):c.3581+5A>G	ATR	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 901118	NM_001184.4(ATR):c.3549A>G (p.Arg1183=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1443597	NM_001184.4(ATR):c.3458A>G (p.Asn1153Ser)	ATR (N1153S +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 901119	NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp)	ATR (N1089D +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +2 more	GUncertain significance
Select item 157977	NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)	ATR (S1142G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 697232	NM_001184.4(ATR):c.3372A>G (p.Gln1124=)	ATR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1496462	NM_001184.4(ATR):c.3340A>G (p.Ile1114Val)	ATR (I1050V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1315287	NM_001184.4(ATR):c.3335A>G (p.Asp1112Gly)	ATR (D1048G +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 1481818	NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser)	ATR (N1092S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 1656617	NM_001184.4(ATR):c.3183A>G (p.Glu1061=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 514178	NM_001184.4(ATR):c.3171+19A>G	ATR	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 901120	NM_001184.4(ATR):c.3161A>G (p.His1054Arg)	ATR (H990R +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +1 more	GUncertain significance
Select item 1366722	NM_001184.4(ATR):c.3014A>G (p.Lys1005Arg)	ATR (K941R +1 more)	Single nucleotide variant (missense variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GUncertain significance
Select item 699904	NM_001184.4(ATR):c.2691A>G (p.Leu897=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1441908	NM_001184.4(ATR):c.2681A>G (p.His894Arg)	ATR (H830R +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 697212	NM_001184.4(ATR):c.2664A>G (p.Ala888=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GLikely benign
Select item 1359752	NM_001184.4(ATR):c.2608A>G (p.Ile870Val)	ATR (I806V +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1 +3 more	GUncertain significance
Select item 903617	NM_001184.4(ATR):c.2532+8A>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1	GUncertain significance
Select item 903618	NM_001184.4(ATR):c.2493A>G (p.Ile831Met)	ATR (I831M +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GUncertain significance
Select item 157971	NM_001184.4(ATR):c.2442A>G (p.Glu814=)	ATR	Single nucleotide variant (synonymous variant)	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more	GBenign

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