c.580C>T[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1116812	NM_001385641.1(SAMD11):c.1117C>T (p.Arg373Trp)	SAMD11 (R194W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2378178	NM_031921.6(ATAD3B):c.580C>T (p.Arg194Trp)	ATAD3B (R148W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577564	NM_001170535.3(ATAD3A):c.817C>T (p.Arg273Cys)	ATAD3A (R194C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2355537	NM_024011.4(CDK11A):c.583C>T (p.Arg195Trp)	CDK11A (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464838	NM_003039.3(SLC2A5):c.712C>T (p.Arg238Cys)	SLC2A5 (R91C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 845963	NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys)	ATP13A2 (R194C +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +2 more	GUncertain significance
Select item 1440461	NM_017837.4(PIGV):c.580C>T (p.Leu194Phe)	PIGV (L194F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1972555	NM_001852.4(COL9A2):c.580C>T (p.His194Tyr)	COL9A2 (H194Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036970	NM_006279.5(ST3GAL3):c.466C>T (p.Arg156Cys)	ST3GAL3 (R109C +9 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1395738	NM_020365.5(EIF2B3):c.580C>T (p.Arg194Cys)	EIF2B3 (R194C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 140876	NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)	MUTYH (Q314* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic
Select item 233048	NM_001048174.2(MUTYH):c.547C>T (p.Leu183Phe)	MUTYH (L211F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2511929	NM_172225.2(DMBX1):c.580C>T (p.Arg194Cys)	DMBX1 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336547	NM_001367484.1(GLIS1):c.1105C>T (p.Arg369Trp)	GLIS1 (R194W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2879339	NM_014762.4(DHCR24):c.580C>T (p.Leu194=)	DHCR24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 918180	NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp)	PCSK9 (R194W +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 297697	NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp)	PCSK9 (R319W +5 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +2 more	GUncertain significance
Select item 1967416	NM_015978.3(TNNI3K):c.277C>T (p.Arg93Cys)	FPGT-TNNI3K, TNNI3K (R93C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300281	NM_003051.4(SLC16A1):c.580C>T (p.Leu194Phe)	SLC16A1 (L194F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1535378	NM_213653.4(HJV):c.580C>T (p.Leu194=)	HJV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3316634	NM_024041.4(SCNM1):c.580C>T (p.Leu194Phe)	SCNM1, TNFAIP8L2-SCNM1 (L159F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 631565	NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)	HAX1 (R242* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 1908466	NM_001111.5(ADAR):c.1465C>T (p.Arg489Trp)	ADAR (R489W +2 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2407260	NM_207197.3(ADAM15):c.550C>T (p.Arg184Trp)	ADAM15, ADAM15-EFNA4 +1 more (R168W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1932779	NM_022367.4(SEMA4A):c.1087C>T (p.Arg363Cys)	SEMA4A (R194C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2590913	NM_030893.4(CD1E):c.1147C>T (p.Arg383Cys)	CD1E (R284C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278416	NM_032738.4(FCRLA):c.1000C>T (p.Leu334Phe)	FCRLA (L150F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358572	NM_177398.4(LMX1A):c.580C>T (p.Arg194Cys)	LMX1A (R194C)	Single nucleotide variant (missense variant)	LMX1A-related disorder	GUncertain significance
Select item 947935	NM_198053.3(CD247):c.490C>T (p.Arg164Cys)	CD247 (R195C +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 3171956	NM_014283.5(SUCO):c.691C>T (p.Pro231Ser)	SUCO (P231S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 476287	NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys)	TOR1AIP1 (R195C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1507321	NM_201253.3(CRB1):c.580C>T (p.Pro194Ser)	CRB1 (P194S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 2325788	NM_016448.4(DTL):c.1393C>T (p.Pro465Ser)	DTL (P423S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1496336	NM_018713.3(SLC30A10):c.580C>T (p.Arg194Trp)	SLC30A10 (R194W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2570220	NM_020997.4(LEFTY1):c.580C>T (p.Arg194Trp)	LEFTY1 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230477	NM_001077710.3(FAM110C):c.580C>T (p.Arg194Cys)	FAM110C (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2147400	NM_001349206.2(LPIN1):c.490C>T (p.Leu164=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3366190	NM_001034116.2(EIF2B4):c.673C>T (p.Arg225Trp)	EIF2B4 (R194W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413574	NM_004304.5(ALK):c.3784C>T (p.Pro1262Ser)	ALK (P1262S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2590263	NM_018079.5(SRBD1):c.580C>T (p.Pro194Ser)	SRBD1 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 842477	NM_000145.4(FSHR):c.658C>T (p.Pro220Ser)	FSHR (P194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93483	NM_001039348.3(EFEMP1):c.580C>T (p.Arg194Trp)	EFEMP1 (R194W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319324	NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)	FANCL (Q189* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
Select item 957323	NM_002618.4(PEX13):c.580C>T (p.Arg194Trp)	PEX13 (R194W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 2507570	NM_001007231.3(ARHGAP25):c.658C>T (p.Arg220Trp)	ARHGAP25 (R194W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1475577	NM_032603.5(LOXL3):c.1015C>T (p.His339Tyr)	LOXL3 (H339Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2588966	NM_001370.2(DNAH6):c.580C>T (p.Arg194Cys)	DNAH6 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326811	NM_001031738.3(TMEM150A):c.739C>T (p.Arg247Trp)	TMEM150A (R194W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 898381	NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys)	ST3GAL5 (R171C +3 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency +1 more	GUncertain significance
Select item 2370195	NM_016044.3(FAHD2A):c.580C>T (p.Arg194Cys)	FAHD2A (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172070	NM_006588.4(SULT1C4):c.580C>T (p.Arg194Cys)	SULT1C4 (R119C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161339	NM_000312.4(PROC):c.580C>T (p.Arg194Cys)	PROC (R194C +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1708734	NM_014795.4(ZEB2):c.652C>T (p.Arg218Trp)	ZEB2 (R194W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961628	NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)	NEB (Q194*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 3307138	NM_003628.6(PKP4):c.1609C>T (p.Leu537Phe)	PKP4 (L537F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123517	NM_001282805.2(MARCHF7):c.1150C>T (p.Pro384Ser)	MARCHF7 (P194S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214218	NM_007366.5(PLA2R1):c.580C>T (p.Arg194Cys)	PLA2R1 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317834	NM_004482.4(GALNT3):c.580C>T (p.His194Tyr)	GALNT3 (H194Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804389	NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter)	DCAF17 (R194*)	Single nucleotide variant (nonsense +1 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 2231769	NM_019558.4(HOXD8):c.583C>T (p.Pro195Ser)	HOXD8 (P195S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 820654	NM_000465.4(BARD1):c.2119C>T (p.Pro707Ser)	BARD1 (P707S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 502791	NM_170699.3(GPBAR1):c.580C>T (p.Arg194Cys)	GPBAR1 (R194C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374209	NM_015488.5(PNKD):c.652C>T (p.Arg218Trp)	PNKD, CATIP-AS2 (R194W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 3270047	NM_021198.3(CTDSP1):c.580C>T (p.Arg194Trp)	CTDSP1 (R159W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2680150	NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)	BCS1L (Q194* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 290129	NM_015311.3(OBSL1):c.580C>T (p.Leu194=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +2 more	GBenign
Select item 488795	NM_181458.4(PAX3):c.583C>T (p.Arg195Ter)	PAX3 (R195* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321935	NM_003590.5(CUL3):c.562C>T (p.Gln188Ter)	CUL3 (Q122* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 253269	NM_001277062.2(MFF):c.739C>T (p.Arg247Ter)	MFF (R298* +6 more)	Single nucleotide variant (nonsense +1 more)	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	GPathogenic
Select item 2283820	NM_014583.4(LMCD1):c.916C>T (p.Pro306Ser)	LMCD1 (P233S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760364	NM_153460.4(IL17RC):c.625C>T (p.Leu209=)	IL17RC	Single nucleotide variant (synonymous variant +1 more)	Candidiasis, familial, 9	GLikely benign
Select item 8144	NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)	PPARG (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 2729374	NM_002880.4(RAF1):c.922C>T (p.Pro308Ser)	RAF1 (P247S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 344656	NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser)	TGFBR2 (P183S +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 213941	NM_003242.6(TGFBR2):c.577C>T (p.Arg193Trp)	TGFBR2 (R193W +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 822702	NM_000249.4(MLH1):c.874C>T (p.Leu292=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 1769460	NM_000249.4(MLH1):c.1303C>T (p.Pro435Ser)	MLH1 (P435S +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3139193	NM_001256964.2(CCDC51):c.580C>T (p.Arg194Cys)	CCDC51, LOC126806676 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636107	NM_004186.5(SEMA3F):c.580C>T (p.Leu194Phe)	SEMA3F (L163F +2 more)	Single nucleotide variant (missense variant)	SEMA3F-related disorder	GUncertain significance
Select item 3120032	NM_015541.3(LRIG1):c.580C>T (p.Arg194Cys)	LRIG1 (R169C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1803027	NM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter)	FOXP1 (Q118* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 425302	NM_001174150.2(ARL13B):c.625C>T (p.Arg209Cys)	ARL13B (R209C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3108536	NM_001627.4(ALCAM):c.580C>T (p.Pro194Ser)	ALCAM (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019651	NM_001276270.2(MBD4):c.1516C>T (p.Arg506Trp)	MBD4 (R512W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552163	NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	CLRN1 (Q194* +2 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1125017	NM_024996.7(GFM1):c.580C>T (p.Leu194=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1150987	NM_020800.3(IFT80):c.991C>T (p.Leu331=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 1957110	NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)	ALG3 (R181C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441787	NM_001012614.2(CTBP1):c.580C>T (p.Pro194Ser)	CTBP1-AS, CTBP1 (P194S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2972100	NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)	SH3BP2 (P194S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 990322	NM_153717.3(EVC):c.580C>T (p.Arg194Trp)	EVC (R194W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3363483	NM_015874.6(RBPJ):c.541C>T (p.Arg181Ter)	RBPJ (R159* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2378118	NM_001085400.2(RELL1):c.580C>T (p.Arg194Trp)	RELL1 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204118	NM_030956.4(TLR10):c.622C>T (p.Arg208Cys)	TLR10 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1204145	NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)	LIAS (R194C +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 2396380	NM_001075.6(UGT2B10):c.580C>T (p.Pro194Ser)	UGT2B10 (P194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220430	NM_020203.6(MEPE):c.919C>T (p.Pro307Ser)	MEPE (P338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034408	NM_152542.5(PPM1K):c.580C>T (p.Leu194=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
Select item 2097184	NM_176869.3(PPA2):c.580C>T (p.Leu194Phe)	PPA2 (L194F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 969483	NM_145207.3(AFG2A):c.580C>T (p.Arg194Ter)	AFG2A (R194* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic

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