c.1430C>T[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1446250	NM_001385641.1(SAMD11):c.1919C>T (p.Ala640Val)	SAMD11 (A640V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093355	NM_198576.4(AGRN):c.1430C>T (p.Ala477Val)	AGRN (A372V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1327714	NM_001170535.3(ATAD3A):c.1667C>T (p.Thr556Ile)	ATAD3A (T477I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 286321	NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met)	NPHP4 (T477M +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1021712	NM_015047.3(EMC1):c.1496C>T (p.Thr499Ile)	EMC1, EMC1-AS1 (T477I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011169	NM_015047.3(EMC1):c.1430C>T (p.Ala477Val)	EMC1, EMC1-AS1 (A455V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3168797	NM_152372.4(MYOM3):c.1430C>T (p.Thr477Ile)	MYOM3 (T477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1611093	NM_198173.3(GRHL3):c.1430C>T (p.Ser477Leu)	GRHL3 (S431L +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GBenign
Select item 3197721	NM_001114759.3(ZNF683):c.1430C>T (p.Ser477Phe)	ZNF683 (S477F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055724	NM_017837.4(PIGV):c.1430C>T (p.Thr477Ile)	PIGV (T477I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2607100	NM_006845.4(KIF2C):c.1769C>T (p.Pro590Leu)	KIF2C (P536L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 483934	NM_001048174.2(MUTYH):c.1427C>T (p.Thr476Ile)	MUTYH (T504I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 188159	NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met)	MUTYH (T477M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2447802	NM_003579.4(RAD54L):c.1430C>T (p.Ala477Val)	RAD54L (A297V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487628	NM_001297663.2(TTC39A):c.1322C>T (p.Thr441Met)	TTC39A (T445M +6 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 1956891	NM_015331.3(NCSTN):c.1490C>T (p.Ala497Val)	NCSTN (A359V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522870	NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)	TOR1AIP1 (A476V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 1430278	NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile)	CACNA1S (T477I)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 3259989	NM_021186.5(ZP4):c.1430C>T (p.Ala477Val)	ZP4 (A477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689305	NM_020738.4(KIDINS220):c.1556C>T (p.Thr519Met)	KIDINS220 (T477M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2491962	NM_024894.4(NOL10):c.1430C>T (p.Pro477Leu)	LOC126806140, NOL10 (P427L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 586661	NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)	SPAST (P509L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2742214	NM_001130987.2(DYSF):c.1523C>T (p.Ala508Val)	DYSF (A477V +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 644603	NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val)	DCTN1 (A360V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2246995	NM_004257.6(TGFBRAP1):c.1430C>T (p.Thr477Met)	TGFBRAP1 (T477M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150498	NM_001378107.1(R3HDM1):c.1430C>T (p.Ala477Val)	R3HDM1 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029015	NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu)	CASP8 (P494L +14 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 819348	NM_000465.4(BARD1):c.1487C>T (p.Ser496Leu)	BARD1 (S496L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 895223	NM_173076.3(ABCA12):c.2384C>T (p.Pro795Leu)	ABCA12 (P477L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 3110902	NM_005544.3(IRS1):c.1430C>T (p.Thr477Ile)	IRS1 (T477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1438840	NM_080424.4(SP110):c.1412C>T (p.Ala471Val)	SP110 (A421V +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2354888	NM_023083.4(CAPN10):c.1895C>T (p.Pro632Leu)	CAPN10 (P632L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127123	NM_001370694.2(ANO7):c.1268C>T (p.Pro423Leu)	ANO7 (P423L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2909056	NM_001077525.3(MTMR14):c.1361C>T (p.Pro454Leu)	MTMR14 (P240L +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2544405	NM_001077525.3(MTMR14):c.1832C>T (p.Ala611Val)	MTMR14 (A272V +27 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2734460	NM_003242.6(TGFBR2):c.1322C>T (p.Ser441Phe)	TGFBR2 (S346F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2075030	NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)	TGFBR2 (S356F +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 2044218	NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)	GLB1 (T376M +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 839524	NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)	GLB1 (P298L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1772495	NM_000249.4(MLH1):c.1430C>T (p.Ser477Phe)	MLH1 (S119F +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +1 more	GUncertain significance
Select item 240663	NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu)	SCN10A (P477L)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GLikely benign
Select item 2623857	NM_020208.4(SLC6A20):c.1541C>T (p.Pro514Leu)	SLC6A20 (P514L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341968	NM_020208.4(SLC6A20):c.1430C>T (p.Thr477Met)	SLC6A20 (T440M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329082	NM_001199161.2(USP19):c.1460C>T (p.Pro487Leu)	USP19 (P371L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317308	NM_020163.3(SEMA3G):c.1430C>T (p.Pro477Leu)	SEMA3G (P477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473204	NM_000158.4(GBE1):c.1430C>T (p.Ala477Val)	GBE1 (A477V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136595	NM_001690.4(ATP6V1A):c.1430C>T (p.Thr477Met)	ATP6V1A (T477M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193732	NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)	ARHGAP31 (P477L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1035475	NM_032638.5(GATA2):c.1430C>T (p.Thr477Ile)	GATA2 (T477I +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1001139	NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)	PCCB (T457I +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 210755	NM_000096.4(CP):c.1430C>T (p.Pro477Leu)	CP (P477L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1444888	NM_000222.3(KIT):c.1430C>T (p.Ser477Phe)	KIT (S478F +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3236801	NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)	CFI (S293F +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GLikely pathogenic
Select item 3290157	NM_016648.4(LARP7):c.1391C>T (p.Pro464Leu)	LARP7 (P463L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395396	NM_001331036.3(ELF2):c.1610C>T (p.Ser537Leu)	ELF2 (S392L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240183	NM_015130.3(TBC1D9):c.1430C>T (p.Pro477Leu)	TBC1D9 (P477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646571	NM_003265.3(TLR3):c.1430C>T (p.Ala477Val)	TLR3 (A477V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1	GUncertain significance
Select item 574308	NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)	SDHA (P477L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1469882	NM_054027.6(ANKH):c.1430C>T (p.Pro477Leu)	ANKH, OTULIN (P477L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 907568	NM_000436.4(OXCT1):c.1520C>T (p.Ala507Val)	OXCT1 (A477V +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3024482	NM_024415.3(DDX4):c.1532C>T (p.Ala511Val)	DDX4 (A362V +3 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 647778	NM_002439.5(MSH3):c.1430C>T (p.Ala477Val)	MSH3 (A477V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231917	NM_000038.6(APC):c.1553C>T (p.Thr518Met)	APC (T500M +12 more)	Single nucleotide variant (missense variant)	Carcinoma of colon +7 more	GConflicting classifications of pathogenicity
Select item 1993922	NM_003060.4(SLC22A5):c.1430C>T (p.Ser477Phe)	SLC22A5 (S477F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1779141	NM_001903.5(CTNNA1):c.1739C>T (p.Ser580Phe)	CTNNA1 (S179F +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 662924	NM_001903.5(CTNNA1):c.1799C>T (p.Ser600Leu)	CTNNA1 (S117L +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1598886	NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile)	GABRB2 (T439I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 3186285	NM_001199298.2(UIMC1):c.1928C>T (p.Ser643Phe)	UIMC1 (S643F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381832	NM_006480.5(RGS14):c.1430C>T (p.Ala477Val)	RGS14 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1021660	NM_000843.4(GRM6):c.1430C>T (p.Ala477Val)	GRM6, ZNF454 (A477V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 423427	NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val)	ADAMTS2 (A477V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 373702	NM_020442.6(VARS2):c.1850C>T (p.Thr617Met)	LOC126859646, VARS2 (T617M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316413	NM_001105564.2(CCHCR1):c.1538C>T (p.Ser513Leu)	CCHCR1 (S305L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1504046	NM_000063.6(C2):c.2168C>T (p.Pro723Leu)	C2 (P694L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308600	NM_181336.4(LEMD2):c.1430C>T (p.Thr477Met)	LEMD2 (T344M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2056400	NM_020745.4(AARS2):c.1430C>T (p.Ala477Val)	AARS2, POLR1C (A477V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498460	NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu)	RIMS1 (S1262L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419687	NM_021813.4(BACH2):c.1430C>T (p.Ser477Leu)	BACH2 (S477L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435280	NM_020771.4(HACE1):c.2213C>T (p.Ala738Val)	HACE1 (A704V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2310752	NM_003980.6(MAP7):c.1340C>T (p.Pro447Leu)	MAP7 (P418L +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611784	NM_001292034.3(TAB2):c.1526C>T (p.Pro509Leu)	LOC126859827, TAB2 (P477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249862	NM_182961.4(SYNE1):c.24824C>T (p.Pro8275Leu)	SYNE1 (P430L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461641	NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu)	SUN1 (S538L +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 724137	NM_001128636.4(ELFN1):c.1430C>T (p.Ala477Val)	ELFN1 (A477V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 959297	NM_014855.3(AP5Z1):c.1430C>T (p.Thr477Met)	AP5Z1 (T477M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 230822	NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)	PMS2 (S529L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 1772494	NM_000535.7(PMS2):c.1430C>T (p.Ser477Phe)	PMS2 (S220F +19 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2345168	NM_015550.4(OSBPL3):c.1523C>T (p.Ala508Val)	OSBPL3 (A508V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2152027	NM_001220.5(CAMK2B):c.1991C>T (p.Pro664Leu)	CAMK2B (P515L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +1 more	GConflicting classifications of pathogenicity
Select item 3081167	NM_019082.4(DDX56):c.1550C>T (p.Ser517Phe)	DDX56 (S477F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174904	NM_004749.4(TBRG4):c.1397C>T (p.Pro466Leu)	TBRG4 (P356L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368096	NM_138295.5(PKD1L1):c.1430C>T (p.Ser477Phe)	PKD1L1 (S477F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258341	NM_001370129.2(ZNF479):c.1430C>T (p.Ser477Phe)	ZNF479 (S477F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1039418	NM_000501.4(ELN):c.1358-186C>T	ELN (T477M)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 1113397	NM_000501.4(ELN):c.1697C>T (p.Ala566Val)	ELN-AS1, ELN (A477V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2497855	NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)	COL1A2 (P477L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3162915	NM_020246.4(SLC12A9):c.1430C>T (p.Ala477Val)	SLC12A9 (A477V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448426	NM_021930.6(RINT1):c.2354C>T (p.Thr785Ile)	EFCAB10, RINT1 (T444I +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3170708	NM_001369598.1(ST7):c.1499C>T (p.Ser500Phe)	ST7 (S450F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 495897	NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)	CFTR, CFTR-AS1 (P477L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance

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