c.20C>T[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1500704	NM_198576.4(AGRN):c.20C>T (p.Pro7Leu)	AGRN (P7L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2839581	NM_002074.5(GNB1):c.320C>T (p.Pro107Leu)	GNB1 (P107L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2193733	NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)	PEX10 (T151I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2487890	NM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met)	KCNAB2 (T7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339974	NM_004781.4(VAMP3):c.20C>T (p.Ala7Val)	VAMP3 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591983	NM_001080397.3(SLC45A1):c.626C>T (p.Ser209Leu)	SLC45A1 (S7L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507242	NM_004565.3(PEX14):c.20C>T (p.Ala7Val)	PEX14 (A7V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2167789	NM_001286.5(CLCN6):c.20C>T (p.Ser7Phe)	CLCN6 (S7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1429896	NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu)	ATP13A2 (P7L)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GUncertain significance
Select item 1378894	NM_015047.3(EMC1):c.20C>T (p.Ser7Phe)	EMC1 (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486328	NM_001122819.3(KIF17):c.320C>T (p.Pro107Leu)	KIF17 (P107L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1199314	NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)	HMGCL (A7V)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 3049381	NM_020448.5(NIPAL3):c.-328C>T	NIPAL3 (P7L)	Single nucleotide variant (5 prime UTR variant +3 more)	NIPAL3-related condition	GBenign
Select item 2515194	NM_005202.4(COL8A2):c.215C>T (p.Pro72Leu)	COL8A2 (P72L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735139	NM_001048174.2(MUTYH):c.296C>T (p.Ala99Val)	MUTYH (A124V +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 371682	NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)	MUTYH (A21V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 2344637	NM_001004339.3(ZYG11A):c.20C>T (p.Pro7Leu)	ZYG11A (P7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328783	NM_001110533.2(CIMAP2):c.20C>T (p.Ala7Val)	CIMAP2 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251196	NM_018291.5(FGGY):c.917C>T (p.Pro306Leu)	FGGY (P172L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399276	NM_006492.3(ALX3):c.20C>T (p.Ala7Val)	ALX3 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260489	NM_001024211.2(S100A13):c.20C>T (p.Thr7Ile)	S100A13 (T7I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216891	NM_080429.3(AQP10):c.20C>T (p.Pro7Leu)	AQP10 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2542379	NM_022457.7(COP1):c.20C>T (p.Ala7Val)	COP1, LOC129931972 (A7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210317	NM_001199085.3(TDRD5):c.1355C>T (p.Pro452Leu)	TDRD5 (P7L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613546	NM_001005388.3(NFASC):c.20C>T (p.Pro7Leu)	NFASC (P7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369453	NM_000715.4(C4BPA):c.20C>T (p.Pro7Leu)	C4BPA (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544726	NM_024746.4(HHIPL2):c.20C>T (p.Pro7Leu)	HHIPL2 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247243	NM_017982.4(SUSD4):c.20C>T (p.Pro7Leu)	SUSD4 (P7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 559322	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	IBA57 (T200I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +3 more	GUncertain significance
Select item 2554812	NM_001010858.3(RNF187):c.20C>T (p.Pro7Leu)	RNF187 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416683	NM_018230.3(NUP133):c.20C>T (p.Ser7Phe)	LOC129932732, NUP133 (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2519318	NM_001004692.2(OR2T12):c.20C>T (p.Thr7Ile)	OR2T12 (T7I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555842	NM_003597.5(KLF11):c.20C>T (p.Ala7Val)	KLF11 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712205	NM_005378.6(MYCN):c.20C>T (p.Ser7Phe)	MYCN, MYCNOS (S7F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1785880	NM_000384.3(APOB):c.20C>T (p.Ala7Val)	APOB, LOC106560211 (A7V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2187762	NM_001034116.2(EIF2B4):c.20C>T (p.Ala7Val)	EIF2B4 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2290114	NM_003162.4(STRN):c.20C>T (p.Pro7Leu)	LOC129933482, STRN (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076919	NM_005633.4(SOS1):c.20C>T (p.Pro7Leu)	LOC129933535, SOS1 (P7L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely benign
Select item 231944	NM_000179.3(MSH6):c.926C>T (p.Ser309Phe)	MSH6 (S309F +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 2635358	NM_001190274.2(FBXO11):c.20C>T (p.Ala7Val)	FBXO11, LOC100506235 (A7V)	Single nucleotide variant (non-coding transcript variant +1 more)	FBXO11-related condition	GUncertain significance
Select item 3001324	NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)	TIA1 (T44I +3 more)	Single nucleotide variant (missense variant +2 more)	Welander distal myopathy	GUncertain significance
Select item 1163414	NM_212552.3(BOLA3):c.20C>T (p.Ala7Val)	BOLA3 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042590	NM_017849.4(TMEM127):c.20C>T (p.Ala7Val)	LOC129934333, TMEM127 (A7V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2557683	NM_144992.5(VWA3B):c.20C>T (p.Ser7Phe)	VWA3B (S7F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778260	NM_144992.5(VWA3B):c.1049C>T (p.Thr350Met)	VWA3B (T350M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2178709	NM_000122.2(ERCC3):c.20C>T (p.Ala7Val)	ERCC3 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2469515	NM_001161417.2(GPR17):c.20C>T (p.Ala7Val)	GPR17, LIMS2 (A7V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1362387	NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)	LIMS2 (S7L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1698017	NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val)	SCN1A (A792V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 845887	NM_001365536.1(SCN9A):c.20C>T (p.Pro7Leu)	SCN9A (P7L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383646	NM_003659.4(AGPS):c.20C>T (p.Ala7Val)	AGPS, LOC129935172 (A7V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2682801	NM_001267550.2(TTN):c.20C>T (p.Thr7Met)	TTN (T7M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613988	NM_173648.4(CCDC141):c.20C>T (p.Pro7Leu)	CCDC141, LOC129935191 (P7L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2494168	NM_015040.4(PIKFYVE):c.20C>T (p.Thr7Met)	PIKFYVE (T7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401361	NM_006055.3(LANCL1):c.20C>T (p.Pro7Leu)	LANCL1 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1893	NM_015488.5(PNKD):c.20C>T (p.Ala7Val)	LOC129935594, PNKD (A7V)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1343504	NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)	CYP27A1 (A7V)	Single nucleotide variant (missense variant)	CYP27A1-related condition +3 more	GUncertain significance
Select item 594969	NM_001927.4(DES):c.20C>T (p.Ser7Phe)	DES (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773438	NM_153480.2(IL17RE):c.20C>T (p.Ala7Val)	IL17RE (A47V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 834621	NM_000249.4(MLH1):c.314C>T (p.Ala105Val)	MLH1 (A105V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1479613	NM_001106.4(ACVR2B):c.20C>T (p.Ala7Val)	LOC129936486, ACVR2B +1 more (A7V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1723724	NM_000335.5(SCN5A):c.20C>T (p.Pro7Leu)	SCN5A (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050741	NM_001042646.3(TRAK1):c.286+23941C>T	TRAK1 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396108	NM_000158.4(GBE1):c.20C>T (p.Pro7Leu)	GBE1 (P7L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 2309783	NM_170662.5(CBLB):c.1208C>T (p.Ser403Leu)	CBLB, LOC126806757 (S143L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2348166	NM_001378074.1(BOC):c.20C>T (p.Thr7Met)	BOC (T7M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250091	NM_017577.5(GRAMD1C):c.635C>T (p.Ser212Leu)	GRAMD1C (S7L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870447	NM_003106.4(SOX2):c.20C>T (p.Thr7Met)	LOC108281177, SOX2 +1 more (T7M)	Single nucleotide variant (missense variant)	Congenital aniridia	GUncertain significance
Select item 2832699	NM_001012614.2(CTBP1):c.20C>T (p.Pro7Leu)	CTBP1 (P7L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195256	NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)	WFS1 (P7L)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GUncertain significance
Select item 1929674	NM_006017.3(PROM1):c.20C>T (p.Ser7Phe)	PROM1 (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699071	NM_003359.4(UGDH):c.311C>T (p.Ala104Val)	UGDH (A104V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 1497233	NM_021927.3(GUF1):c.992C>T (p.Ala331Val)	GUF1 (A331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240325	NM_006206.6(PDGFRA):c.20C>T (p.Ala7Val)	PDGFRA (A7V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1359604	NM_000222.3(KIT):c.20C>T (p.Ala7Val)	KIT (A7V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2574227	NM_024592.5(SRD5A3):c.20C>T (p.Ala7Val)	SRD5A3 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333003	NM_004885.2(NPFFR2):c.20C>T (p.Thr7Ile)	NPFFR2 (T7I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1413189	NM_001358921.2(COQ2):c.20C>T (p.Ala7Val)	COQ2, LOC112997540 (A57V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799642	NM_139076.3(ABRAXAS1):c.20C>T (p.Ser7Leu)	ABRAXAS1, LOC129992784 (S7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3026688	NM_057175.5(NAA15):c.20C>T (p.Pro7Leu)	NAA15, NDUFC1 (P7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405241	NM_001034850.3(RETREG1):c.20C>T (p.Pro7Leu)	LOC129993734, RETREG1 +1 more (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900881	NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)	AMACR, C1QTNF3-AMACR (S7L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2613746	NM_002185.5(IL7R):c.20C>T (p.Thr7Ile)	IL7R (T7I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 984262	NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)	ERCC8, ERCC8-AS1 (Q133* +2 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 2277216	NM_181506.5(LRRC70):c.20C>T (p.Ser7Phe)	IPO11-LRRC70, LRRC70 +1 more (S7F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2628882	NM_001177693.2(ARHGEF28):c.1024+18217C>T	ARHGEF28 (S7L)	Single nucleotide variant (missense variant +1 more)	ARHGEF28-related condition	GUncertain significance
Select item 2622485	NM_017614.5(BHMT2):c.20C>T (p.Pro7Leu)	BHMT2 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 642980	NM_002439.5(MSH3):c.20C>T (p.Ala7Val)	MSH3, DHFR (A7V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 999712	NM_001127511.3(APC):c.20C>T (p.Ser7Leu)	APC (S7L)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 1924289	NM_181836.6(TMED7):c.20C>T (p.Ala7Val)	TMED7, TMED7-TICAM2 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 571952	NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val)	ALDH7A1 (A7V)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy	GUncertain significance
Select item 834443	NM_001903.5(CTNNA1):c.389C>T (p.Ala130Val)	CTNNA1 (A130V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2222058	NM_001199383.2(RNF145):c.-32C>T	RNF145 (S20F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2001915	NM_004415.4(DSP):c.20C>T (p.Ser7Phe)	DSP, DSP-AS1 (S7F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2475113	NM_001312653.2(H2BC12):c.20C>T (p.Ser7Phe)	H2BC12 (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412694	NM_020442.6(VARS2):c.-28+87C>T	VARS2 (P7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2262780	NM_019101.3(APOM):c.236C>T (p.Pro79Leu)	APOM (P7L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1029025	NM_006295.3(VARS1):c.20C>T (p.Ser7Phe)	VARS1 (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445108	NM_001358530.2(MOCS1):c.281C>T (p.Pro94Leu)	MOCS1 (P7L +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 694080	NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu)	SLC29A1, POLR1C (P33L +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck	GUncertain significance

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