c.1343 A>G|Y446C|p.Tyr448Cys - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323171	NM_032129.3(PLEKHN1):c.1187G>A (p.Arg396Gln)	PLEKHN1 (R408Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110101	NM_017871.6(INTS11):c.1646G>A (p.Gly549Asp)	INTS11 (G451D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173991	NM_152228.3(TAS1R3):c.1343G>C (p.Gly448Ala)	TAS1R3 (G448A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 508335	NM_000302.4(PLOD1):c.1202+3G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2293656	NM_152372.4(MYOM3):c.1343G>C (p.Arg448Thr)	MYOM3 (R448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233693	NM_005839.4(SRRM1):c.1601G>A (p.Arg534Gln)	SRRM1 (R448Q +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146473	NM_006314.3(CNKSR1):c.1343A>G (p.Asn448Ser)	CNKSR1 (N190S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362953	NM_031459.5(SESN2):c.1343G>A (p.Arg448His)	SESN2 (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322316	NM_144569.7(SPOCD1):c.2864G>A (p.Arg955His)	SPOCD1 (R219H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465008	NM_018134.3(IQCC):c.1343G>T (p.Gly448Val)	IQCC (G448V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 572116	NM_001048174.2(MUTYH):c.1343T>C (p.Leu448Pro)	MUTYH (L476P +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2816916	NM_001048174.2(MUTYH):c.1322T>C (p.Val441Ala)	MUTYH (V326A +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 3079564	NM_000775.4(CYP2J2):c.1343G>A (p.Cys448Tyr)	CYP2J2 (C448Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081712	NM_001114120.3(DEPDC1):c.1343T>C (p.Ile448Thr)	DEPDC1 (I448T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288563	NM_001393907.1(GPR61):c.1343G>A (p.Arg448Gln)	GPR61 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294884	NM_001376665.1(MINDY1):c.1370G>T (p.Arg457Leu)	MINDY1 (R292L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388663	NM_020524.4(PBXIP1):c.1808T>C (p.Phe603Ser)	PBXIP1 (F603S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +9 more	GPathogenic/Likely pathogenic
Select item 2030984	NM_000298.6(PKLR):c.1436+2T>C	PKLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2607696	NM_030764.4(FCRL2):c.1343A>G (p.Tyr448Cys)	FCRL2 (Y448C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309167	NM_003126.4(SPTA1):c.1343G>C (p.Arg448Pro)	SPTA1 (R448P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517792	NM_001282693.2(FMO1):c.1325A>G (p.Tyr442Cys)	FMO1 (Y379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945701	NM_014283.5(SUCO):c.869A>G (p.His290Arg)	SUCO (H253R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2230122	NM_014875.3(KIF14):c.1337A>G (p.Tyr446Cys)	KIF14 (Y446C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309138	NM_001304331.2(PPFIA4):c.1541G>A (p.Arg514Gln)	PPFIA4 (R448Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594214	NM_001033910.3(TRAF5):c.1310G>A (p.Arg437His)	TRAF5 (R448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610682	NM_017982.4(SUSD4):c.1343G>C (p.Arg448Thr)	SUSD4 (R520T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182727	NM_001004342.5(TRIM67):c.1529G>A (p.Cys510Tyr)	TRIM67 (C448Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259130	NM_024836.3(ZNF672):c.1343G>T (p.Gly448Val)	ZNF672 (G448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 936688	NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser)	ADAM17, IAH1 (L448S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1959311	NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro)	DNMT3A (L414P +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 894831	NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)	HADHB (E448G +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 65799	NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)	OTOF (L1138P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1770261	NM_000179.3(MSH6):c.1337A>G (p.Glu446Gly)	MSH6 (E144G +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 525799	NM_000179.3(MSH6):c.1343G>A (p.Gly448Glu)	MSH6 (G448E +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1720258	NM_000179.3(MSH6):c.1511A>G (p.Lys504Arg)	MSH6 (K202R +8 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 572941	NM_000179.3(MSH6):c.1733A>G (p.His578Arg)	MSH6 (H578R +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +1 more	GUncertain significance
Select item 2812439	NM_001330078.2(NRXN1):c.1223T>C (p.Leu408Pro)	NRXN1 (L400P +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 502160	NM_001130987.2(DYSF):c.1346A>G (p.Asp449Gly)	DYSF (D417G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599486	NM_198274.4(SMYD1):c.1376A>G (p.Tyr459Cys)	SMYD1 (Y446C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 337662	NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg)	CNGA3 (K448R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3153206	NM_016316.4(REV1):c.1343G>T (p.Ser448Ile)	REV1 (S378I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165704	NM_001011552.4(SLC9A4):c.1343G>A (p.Arg448Lys)	SLC9A4 (R448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395407	NM_144978.3(CCDC138):c.1358G>A (p.Gly453Asp)	CCDC138, RANBP2 (G411D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317470	NM_144710.5(SEPTIN10):c.1343G>T (p.Arg448Leu)	RANBP2, SEPTIN10 (R315L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223812	NM_001142807.4(ACOXL):c.1253G>A (p.Arg418Gln)	ACOXL (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683365	NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg)	POLR1B (Q448R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260010	NM_032143.4(ZRANB3):c.2699A>G (p.Tyr900Cys)	ZRANB3 (Y900C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682545	NM_001349.4(DARS1):c.1343-7T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747231	NM_003628.6(PKP4):c.1343-9A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3324818	NM_006593.4(TBR1):c.1343G>T (p.Gly448Val)	TBR1 (G448V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365702	NM_001040142.2(SCN2A):c.1343A>G (p.Gln448Arg)	SCN2A (Q448R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626009	NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)	SCN1A (I448T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +5 more	GUncertain significance
Select item 2896142	NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)	CHRNA1 (Y421C +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3285446	NM_152517.3(IFT70B):c.1343G>A (p.Arg448His)	IFT70B (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539986	NM_152945.4(RBM45):c.1337A>G (p.His446Arg)	RBM45 (H446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 21728	NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys)	CASP10 (Y446C +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GBenign
Select item 1039232	NM_000465.4(BARD1):c.1343T>C (p.Leu448Ser)	BARD1 (L448S +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 479150	NM_000465.4(BARD1):c.1337A>G (p.Tyr446Cys)	BARD1 (Y446C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2269940	NM_001144889.2(SLC23A3):c.1343T>C (p.Ile448Thr)	SLC23A3 (I331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1434261	NM_005876.5(SPEG):c.1343G>A (p.Gly448Asp)	SPEG (G448D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1054439	NM_025243.4(SLC19A3):c.1355T>C (p.Ile452Thr)	SLC19A3 (I448T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 748020	NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala)	SLC19A3 (V444A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2332117	NM_138402.6(SP140L):c.1370G>A (p.Cys457Tyr)	SP140L (C388Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121047	NM_001137550.2(LRRFIP1):c.1459+3019A>G	LRRFIP1 (E448G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552877	NM_001282771.3(ANKMY1):c.2744G>A (p.Arg915Gln)	ANKMY1 (R498Q +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1062036	NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg)	FANCD2, LOC107303338 (Q448R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 947552	NM_003042.4(SLC6A1):c.1343A>G (p.Lys448Arg)	SLC6A1 (K270R +2 more)	Single nucleotide variant (missense variant)	Myoclonic-atonic epilepsy	GBenign
Select item 2326556	NM_001349232.2(ATG7):c.1343G>A (p.Ser448Asn)	ATG7 (S137N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2734461	NM_003242.6(TGFBR2):c.1343A>G (p.Tyr448Cys)	TGFBR2 (Y448C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2350666	NM_001039111.3(TRIM71):c.1343G>A (p.Arg448Gln)	TRIM71 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 127617	NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)	MLH1 (K546R +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GUncertain significance
Select item 90016	NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)	MLH1 (Q689R +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 1045538	NM_014159.7(SETD2):c.1337A>G (p.Tyr446Cys)	SETD2 (Y402C +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 2318484	NM_001385682.1(MAP4):c.6125G>C (p.Arg2042Pro)	MAP4 (R2042P +41 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589507	NM_020998.4(MST1):c.1343T>C (p.Met448Thr)	MST1 (M448T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216406	NM_002217.4(ITIH3):c.1343G>A (p.Arg448Gln)	ITIH3 (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286909	NM_002218.5(ITIH4):c.1343T>C (p.Leu448Pro)	ITIH4 (L448P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 842921	NM_001377540.1(SLMAP):c.1343A>G (p.Glu448Gly)	SLMAP (E448G +5 more)	Single nucleotide variant (missense variant +2 more)	Brugada syndrome	GUncertain significance
Select item 3266547	NM_033364.4(CFAP91):c.1529A>G (p.Asn510Ser)	CFAP91 (N490S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1381626	NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys)	IFT122 (Y247C +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2104188	NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)	IFT122 (N487S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1521555	NM_007289.4(MME):c.1343G>A (p.Arg448Gln)	MME (R448Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343932	NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)	GFM1 (D448G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 225874	NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)	TBL1XR1 (Y446C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 627550	NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)	TBL1XR1 (Y446H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 2573649	NM_024665.7(TBL1XR1):c.1192A>T (p.Lys398Ter)	TBL1XR1 (K311* +1 more)	Single nucleotide variant (nonsense)	Malignant lymphoma, large B-cell, diffuse	GLikely pathogenic
Select item 3144541	NM_003741.4(CHRD):c.1343G>A (p.Ser448Asn)	CHRD (S78N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208199	NM_001137608.3(ZNF732):c.1343G>A (p.Cys448Tyr)	ZNF732 (C448Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269340	NM_001014447.3(CPZ):c.1754G>T (p.Gly585Val)	CPZ (G574V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2865530	NM_006206.6(PDGFRA):c.1268A>G (p.Asp423Gly)	PDGFRA (D436G +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2266233	NM_001024924.2(EXOC1):c.1343G>C (p.Arg448Pro)	EXOC1 (R448P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466147	NM_001037442.4(RUFY3):c.1343G>A (p.Arg448His)	RUFY3 (R395H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589732	NM_001394954.1(CCDC158):c.1343G>A (p.Arg448Gln)	CCDC158 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348803	NM_144571.3(CNOT6L):c.1334T>C (p.Met445Thr)	CNOT6L (M440T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545673	NM_025074.7(FRAS1):c.1343G>T (p.Gly448Val)	FRAS1 (G448V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789175	NM_006457.5(PDLIM5):c.1670A>G (p.Tyr557Cys)	PDLIM5 (Y586C +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2226771	NM_001033047.3(NPNT):c.1430A>G (p.His477Arg)	NPNT (H507R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733343	NM_001128174.3(UGT8):c.1337A>G (p.Tyr446Cys)	UGT8 (Y446C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1060737	NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys)	MFSD8 (Y408C +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance

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