c.727C>T[varname] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 411

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1455721	NM_002617.4(PEX10):c.727C>T (p.Gln243Ter)	PEX10 (Q262* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2303177	NM_024758.5(AGMAT):c.727C>T (p.Arg243Trp)	AGMAT (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 857252	NM_015047.3(EMC1):c.727C>T (p.Arg243Cys)	EMC1, EMC1-AS1 (R243C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2689015	NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)	EPB41 (R243W +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 1310301	NM_024009.3(GJB3):c.727C>T (p.His243Tyr)	GJB3 (H243Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055772	NM_022356.4(P3H1):c.727C>T (p.Arg243Cys)	P3H1 (R243C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2453360	NM_001048174.2(MUTYH):c.1072C>T (p.Gln358Ter)	MUTYH (Q330* +12 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 246369	NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)	MUTYH (Q260* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1147070	NM_001048174.2(MUTYH):c.643C>T (p.Leu215=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1209698	NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	POMGNT1, TSPAN1 (R122C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 3163298	NM_006671.6(SLC1A7):c.943C>T (p.Leu315Phe)	SLC1A7 (L243F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 939458	NM_000098.3(CPT2):c.727C>T (p.Leu243Phe)	CPT2 (L243F)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1438490	NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)	ACADM (R276* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 2140598	NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)	AMPD2 (R206C +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 515916	NM_001378969.1(KCND3):c.727C>T (p.Leu243=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1325075	NM_003051.4(SLC16A1):c.727C>T (p.Arg243Ter)	SLC16A1 (R243*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1410268	NM_181703.4(GJA5):c.727C>T (p.Gln243Ter)	GJA5, LOC122128420 (Q243*)	Single nucleotide variant (nonsense)	Atrial standstill 1 +1 more	GUncertain significance
Select item 1140127	NM_007259.5(VPS45):c.1042C>T (p.Leu348=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 222946	NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)	ECM1 (R243* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 3097808	NM_144618.3(GABPB2):c.841C>T (p.Pro281Ser)	GABPB2 (P225S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2828828	NM_001330723.2(SNX27):c.727C>T (p.Leu243=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3280870	NM_020699.4(GATAD2B):c.727C>T (p.Gln243Ter)	GATAD2B (Q243*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2267785	NM_152280.5(SYT11):c.727C>T (p.His243Tyr)	SYT11 (H243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66767	NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)	LMNA (Q355* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +1 more	GPathogenic
Select item 167672	NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp)	SEMA4A (R375W +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 35 +4 more	GUncertain significance
Select item 456623	NM_002529.4(NTRK1):c.817C>T (p.Arg273Trp)	NTRK1 (R273W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2354724	NM_005600.3(NIT1):c.727C>T (p.Arg243Trp)	NIT1 (R207W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495761	NM_001198956.2(DCAF6):c.727C>T (p.Arg243Cys)	DCAF6 (R212C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1020274	NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)	SERPINC1 (R243C +1 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 1172591	NM_018136.5(ASPM):c.727C>T (p.Arg243Ter)	ASPM (R243*)	Single nucleotide variant (nonsense)	Microcephaly +1 more	GPathogenic
Select item 1897435	NM_001276345.2(TNNT2):c.736C>T (p.Leu246=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +2 more	GLikely benign
Select item 2411071	NM_004997.3(MYBPH):c.727C>T (p.Arg243Cys)	MYBPH (R243C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 35480	NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)	LAMB3 (Q243*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2226313	NM_018230.3(NUP133):c.727C>T (p.His243Tyr)	NUP133 (H243Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627009	NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)	MYCN (Q243*)	Single nucleotide variant (nonsense +2 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2562475	NM_021907.5(DTNB):c.1168C>T (p.Arg390Cys)	DTNB (R186C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269007	NM_001034116.2(EIF2B4):c.820C>T (p.His274Tyr)	EIF2B4, GTF3C2-AS2 (H243Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3098083	NM_024572.4(GALNT14):c.832C>T (p.Pro278Ser)	GALNT14 (P243S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188664	NM_053276.4(VIT):c.964C>T (p.Arg322Trp)	VIT (R286W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4977	NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	ABCG5, DYNC2LI1 (R243*)	Single nucleotide variant (nonsense +1 more)	ABCG5-related disorder	GPathogenic
Select item 1976490	NM_001171613.2(PREPL):c.727C>T (p.Pro243Ser)	PREPL (P332S +1 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 933483	NM_001171613.2(PREPL):c.460C>T (p.Arg154Cys)	PREPL (R243C +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 140577	NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter)	TTC7A (Q277* +1 more)	Single nucleotide variant (nonsense +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1	GPathogenic
Select item 408458	NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)	MSH2 (R243W +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 142675	NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)	MSH6 (R243C +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 410462	NM_000179.3(MSH6):c.1117C>T (p.Leu373Phe)	MSH6 (L373F +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 2259490	NM_006062.3(SMYD5):c.727C>T (p.Arg243Trp)	SMYD5 (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1077804	NM_006302.3(MOGS):c.1045C>T (p.Leu349=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3178862	NM_001031738.3(TMEM150A):c.727C>T (p.Pro243Ser)	TMEM150A (P190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727154	NM_015425.6(POLR1A):c.727C>T (p.Leu243=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455969	NM_015341.5(NCAPH):c.727C>T (p.Pro243Ser)	NCAPH (P232S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1136916	NM_001298.3(CNGA3):c.781C>T (p.Leu261=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460924	NM_153836.4(CREG2):c.727C>T (p.His243Tyr)	CREG2 (H243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189644	NM_139343.3(BIN1):c.808C>T (p.Leu270=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 582942	NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)	LIMS2 (H216Y +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2590337	NM_002410.5(MGAT5):c.727C>T (p.Arg243Trp)	MGAT5 (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123697	NM_138395.4(MARS2):c.727C>T (p.Leu243Phe)	MARS2 (L243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378508	NM_001369441.2(NIF3L1):c.727C>T (p.Pro243Ser)	NIF3L1 (P216S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1609907	NM_032977.4(CASP10):c.928C>T (p.Leu310=)	CASP10	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2237236	NM_005048.4(PTH2R):c.1336C>T (p.Arg446Cys)	PTH2R (R243C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 479170	NM_000465.4(BARD1):c.2080C>T (p.Leu694Phe)	BARD1 (L694F +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 201702	NM_001927.4(DES):c.727C>T (p.His243Tyr)	DES (H243Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 547745	NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)	PAX3 (P244S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283138	NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)	CHRND (R243C +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1899172	NM_153460.4(IL17RC):c.514C>T (p.Arg172Ter)	IL17RC (R172* +2 more)	Single nucleotide variant (nonsense +1 more)	Candidiasis, familial, 9	GUncertain significance
Select item 12567	NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)	THRB, LOC126806630 (R243W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2338940	NM_001278182.2(EOMES):c.1612C>T (p.Leu538Phe)	EOMES (L243F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 919747	NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp)	TGFBR2 (R207W +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2049295	NM_033629.6(TREX1):c.757C>T (p.His253Tyr)	ATRIP, ATRIP-TREX1 +1 more (H243Y +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 835761	NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)	GMPPB (R243W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +3 more	GConflicting classifications of pathogenicity
Select item 3337183	NM_153273.4(IP6K1):c.727C>T (p.Arg243Trp)	IP6K1 (R243W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241071	NM_015896.4(ZMYND10):c.727C>T (p.Arg243Cys)	ZMYND10 (R243C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1419472	NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser)	CACNA2D2 (P174S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 3100652	NM_014366.5(GNL3):c.727C>T (p.Leu243Phe)	GNL3 (L243F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064904	NM_001379210.1(SLC25A26):c.727C>T (p.Pro243Ser)	SLC25A26 (P140S +3 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 28	GUncertain significance
Select item 998004	NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	POU1F1 (R217* +1 more)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1440955	NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter)	ARL13B (Q155* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 8	GPathogenic
Select item 649336	NM_032638.5(GATA2):c.727C>T (p.His243Tyr)	GATA2 (H243Y)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1367187	NM_024818.6(UBA5):c.895C>T (p.Pro299Ser)	NPHP3-ACAD11, UBA5 (P299S +3 more)	Single nucleotide variant (missense variant)	UBA5-related disorder +2 more	GUncertain significance
Select item 1132236	NM_000532.5(PCCB):c.667C>T (p.Leu223=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1030323	NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)	DZIP1L (Q243*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 5	GLikely pathogenic
Select item 869394	NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)	GFM1 (P129S +6 more)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1460386	NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	GFM1 (Q357* +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 6527	NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	TP63 (R243W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2429656	NM_003722.5(TP63):c.1009C>T (p.Arg337Ter)	TP63 (R158* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 5085	NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)	OPA1 (R366* +8 more)	Single nucleotide variant (nonsense)	OPA1-related optic atrophy with or without extraocular features +2 more	GPathogenic
Select item 2510228	NM_032288.7(FYTTD1):c.727C>T (p.Pro243Ser)	FYTTD1 (P243S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2140466	NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)	IDUA (R243C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2066822	NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser)	SH3BP2 (P272S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2286379	NM_182982.3(GRK4):c.823C>T (p.His275Tyr)	GRK4 (H243Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590279	NM_001085382.2(PSAPL1):c.727C>T (p.Pro243Ser)	PSAPL1, SORCS2 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478193	NM_001358.3(DHX15):c.727C>T (p.Arg243Cys)	DHX15 (R243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2894595	NM_025009.5(CEP135):c.727C>T (p.Arg243Ter)	CEP135 (R243*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2555023	NM_001073.3(UGT2B11):c.727C>T (p.Pro243Ser)	LOC105377267, UGT2B11 (P243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1435068	NM_001134665.3(TRMT10A):c.727C>T (p.Arg243Ter)	TRMT10A (R236* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2149791	NM_176869.3(PPA2):c.814C>T (p.His272Tyr)	PPA2 (H243Y +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, infantile +2 more	GConflicting classifications of pathogenicity
Select item 1501788	NM_001163435.3(TBCK):c.844C>T (p.Pro282Ser)	TBCK (P243S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2173594	NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)	MFSD8 (R187C +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1805944	NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)	MFSD8 (Q149* +5 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 3318072	NM_001378122.1(SH3D19):c.1675C>T (p.Leu559Phe)	SH3D19 (L279F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 5