c.106C>T[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2250015	NM_015658.4(NOC2L):c.106C>T (p.Pro36Ser)	NOC2L (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319041	NM_153339.3(PUSL1):c.106C>T (p.Arg36Cys)	PUSL1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336146	NM_001145210.3(ANKRD65):c.106C>T (p.Pro36Ser)	ANKRD65, ANKRD65-AS1 (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1988343	NM_015164.4(PLEKHM2):c.106C>T (p.Arg36Trp)	PLEKHM2 (R36W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive	GUncertain significance
Select item 2359957	NM_001122819.3(KIF17):c.406C>T (p.Arg136Trp)	KIF17 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874540	NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)	FUCA1 (R36C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 721173	NM_031459.5(SESN2):c.106C>T (p.Arg36Trp)	SESN2 (R36W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2467237	NM_002794.5(PSMB2):c.457C>T (p.Arg153Cys)	PSMB2 (R36C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123159	NM_001388490.1(MAP7D1):c.106C>T (p.Pro36Ser)	MAP7D1 (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1364756	NM_024664.4(PPCS):c.724C>T (p.Arg242Ter)	CCDC30, PPCS (R36* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3326687	NM_144626.3(TMEM125):c.106C>T (p.Leu36Phe)	TMEM125 (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085479	NM_001384.5(DPH2):c.511C>T (p.Arg171Trp)	DPH2, LOC126805726 (R95W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155331	NM_018150.4(RNF220):c.106C>T (p.Arg36Cys)	RNF220 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315909	NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp)	POMGNT1 (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1285510	NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)	NFIA (R28* +2 more)	Single nucleotide variant (nonsense)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 965484	NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)	RPE65 (L36F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1971776	NM_015978.3(TNNI3K):c.106C>T (p.Gln36Ter)	FPGT-TNNI3K, TNNI3K (Q137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1349268	NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter)	AMPD1 (Q36* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 566514	NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)	CHRNB2 (L36F)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 66770	NM_170707.4(LMNA):c.106C>T (p.Gln36Ter)	LMNA (Q36*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2639479	NM_001005278.2(OR6N2):c.106C>T (p.Leu36=)	OR6N1, OR6N2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 647114	NM_002241.5(KCNJ10):c.106C>T (p.Arg36Cys)	KCNJ10 (R36C)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2974979	NM_006996.3(SLC19A2):c.106C>T (p.Leu36=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913283	NM_022100.3(MRPS14):c.106C>T (p.Arg36Cys)	MRPS14 (R36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1133769	NM_000069.3(CACNA1S):c.106C>T (p.Leu36=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2103299	NM_000572.3(IL10):c.361C>T (p.Leu121=)	IL10, IL19	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 3273950	NM_016448.4(DTL):c.919C>T (p.Pro307Ser)	DTL (P307S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156271	NM_012424.6(RPS6KC1):c.997C>T (p.Pro333Ser)	RPS6KC1 (P212S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 225923	NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter)	ZBTB18 (R45* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic
Select item 2320097	NM_002539.3(ODC1):c.493C>T (p.Arg165Cys)	ODC1 (R165C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222703	NM_033253.4(NT5C1B):c.106C>T (p.Arg36Cys)	NT5C1B, NT5C1B-RDH14 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161419	NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)	HADHB (P36S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 242902	NM_002437.5(MPV17):c.106C>T (p.Gln36Ter)	MPV17 (Q36*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GUncertain significance
Select item 1684073	NM_001034116.2(EIF2B4):c.691C>T (p.Arg231Cys)	EIF2B4 (R200C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133457	NM_004304.5(ALK):c.106C>T (p.Pro36Ser)	ALK (P36S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2559313	NM_001002257.3(LCLAT1):c.106C>T (p.Pro36Ser)	LCLAT1 (P74S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486090	NM_139279.6(MCFD2):c.106C>T (p.Pro36Ser)	MCFD2 (P36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2758825	NM_020458.4(TTC7A):c.106C>T (p.Leu36=)	MCFD2, TTC7A (S6N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1976160	NM_001190274.2(FBXO11):c.106C>T (p.Pro36Ser)	FBXO11, LOC100506235 (P36S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2203108	NM_013247.5(HTRA2):c.106C>T (p.Arg36Trp)	HTRA2 (R36W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2024397	NM_001135649.3(FOXI3):c.106C>T (p.Pro36Ser)	FOXI3 (P36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2448385	NM_017849.4(TMEM127):c.106C>T (p.Pro36Ser)	LOC129934333, TMEM127 (P36S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1701845	NM_030805.4(LMAN2L):c.508-1102C>T	LMAN2L (R174* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1082556	NM_020184.4(CNNM4):c.106C>T (p.Arg36Trp)	CNNM4 (R36W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14676	NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter)	IL1RN (Q54* +3 more)	Single nucleotide variant (nonsense)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 1298823	NM_000312.4(PROC):c.112C>T (p.Arg38Trp)	PROC (R30W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2403971	NM_014369.4(PTPN18):c.427C>T (p.Arg143Trp)	PTPN18 (R143W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545873	NM_012097.4(ARL5A):c.217C>T (p.Leu73Phe)	ARL5A (L36F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 204924	NM_000726.5(CACNB4):c.208C>T (p.Arg70Trp)	CACNB4 (R70W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1728785	NM_003628.6(PKP4):c.1132C>T (p.Pro378Ser)	PKP4 (P378S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162114	NM_025000.4(DCAF17):c.106C>T (p.Leu36=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 626277	NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)	NDUFS1 (R22* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 2734384	NM_173076.3(ABCA12):c.1060C>T (p.Gln354Ter)	ABCA12 (Q354* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2807652	NM_018089.3(ANKZF1):c.736C>T (p.Gln246Ter)	ANKZF1 (Q246* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2073688	NM_001927.4(DES):c.106C>T (p.Pro36Ser)	DES (P36S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3212603	NM_001100818.2(PID1):c.106C>T (p.His36Tyr)	PID1 (H69Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT (R36C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2615695	NM_001167600.3(NEU4):c.67C>T (p.Arg23Cys)	NEU4 (R35C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1350168	NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	ITPR1 (R36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2752443	NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)	JAGN1 (L90F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	GUncertain significance
Select item 1548139	NM_004628.5(XPC):c.685C>T (p.Leu229=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3171696	NM_178862.3(STT3B):c.106C>T (p.Pro36Ser)	LOC129936408, STT3B (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322200	NM_032970.4(SEC22C):c.106C>T (p.Arg36Trp)	SEC22C (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197553	NM_207404.4(ZNF662):c.106C>T (p.Pro36Ser)	ZNF662 (P96S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1577283	NM_032806.6(POMGNT2):c.106C>T (p.Leu36=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GLikely benign
Select item 3179478	NM_144638.3(TMEM42):c.106C>T (p.Arg36Cys)	KIF15, LOC129936610 +1 more (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372150	NM_002343.6(LTF):c.145C>T (p.Arg49Cys)	LTF (R49C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2092307	NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)	GMPPB (H36Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2374913	NM_144641.4(PPM1M):c.742C>T (p.Pro248Ser)	PPM1M (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1454143	NM_004656.4(BAP1):c.106C>T (p.Gln36Ter)	BAP1 (Q36*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 978588	NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)	PDHB (R36C +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2387115	NM_001085451.2(LNP1):c.106C>T (p.Arg36Cys)	LNP1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406077	NM_017945.5(SLC35A5):c.460C>T (p.Leu154Phe)	SLC35A5 (L36F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804890	NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe)	SEC61A1 (L36F +2 more)	Single nucleotide variant (missense variant)	Hyperuricemic nephropathy, familial juvenile type 4	GLikely pathogenic
Select item 1389923	NM_052989.3(IFT122):c.556C>T (p.Pro186Ser)	IFT122 (P36S +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1453162	NM_000539.3(RHO):c.106C>T (p.Gln36Ter)	RHO (Q36*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1937466	NM_024818.6(UBA5):c.274C>T (p.Leu92=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2105633	NM_001085049.3(MRAS):c.334C>T (p.Arg112Cys)	MRAS (R112C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2275833	NM_001042706.3(IQCJ):c.187C>T (p.Arg63Trp)	IQCJ, IQCJ-SCHIP1 (R63W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110479	NM_001197113.2(IQCJ-SCHIP1):c.1030C>T (p.Leu344Phe)	IQCJ-SCHIP1, SCHIP1 (L255F +14 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 466611	NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys)	SERPINI1 (R36C)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 214298	NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)	DNAJC19 (R61W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1078774	NM_001312673.2(PCYT1A):c.106C>T (p.Arg36Cys)	PCYT1A (R36C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2539570	NM_182627.3(WDR53):c.589C>T (p.Pro197Ser)	WDR53 (P197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224171	NM_015274.3(MAN2B2):c.106C>T (p.His36Tyr)	MAN2B2 (H36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2697668	NM_016955.4(SEPSECS):c.106C>T (p.Leu36=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086064	NM_001170700.3(DTHD1):c.976C>T (p.Arg326Trp)	DTHD1 (R36W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 528585	NM_000222.3(KIT):c.106C>T (p.Pro36Ser)	KIT (P36S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1782948	NM_012108.4(STAP1):c.106C>T (p.Arg36Trp)	STAP1 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780111	NM_133636.5(HELQ):c.106C>T (p.Pro36Ser)	HELQ, LOC112997542 (P36S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2738868	NM_001148.6(ANK2):c.106C>T (p.Leu36Phe)	ANK2 (L36F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2140214	NM_002454.3(MTRR):c.106C>T (p.His36Tyr)	MTRR (H36Y)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 1502162	NM_014324.6(AMACR):c.106C>T (p.Arg36Trp)	AMACR, C1QTNF3-AMACR (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1451432	NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter)	MOCS2 (Q36*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1029457	NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)	OCLN (R36*)	Single nucleotide variant (nonsense +1 more)	Pseudo-TORCH syndrome 1	GPathogenic
Select item 2342825	NM_001099271.2(POC5):c.106C>T (p.His36Tyr)	POC5 (H11Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1388057	NM_002890.3(RASA1):c.637C>T (p.Pro213Ser)	CCNH, RASA1 (P213S +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 976480	NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)	MEF2C (Q130* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 1382074	NM_001127511.3(APC):c.106C>T (p.Gln36Ter)	APC (Q36*)	Single nucleotide variant (nonsense +4 more)	Familial adenomatous polyposis 1	GUncertain significance
Select item 2381285	NM_016144.4(COMMD10):c.106C>T (p.Arg36Trp)	COMMD10 (R36W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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