varia excelsa - ClinVar - NCBI

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The following term was not found in ClinVar: excelsa.
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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666960	NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)	AGRN (S194fs +1 more)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 163414	NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn)	ESPN (S835N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4496	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON (G315S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 163753	NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)	KCNQ4 (S423R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 164781	NM_144573.4(NEXN):c.220A>C (p.Ile74Leu)	NEXN (I74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47900	NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)	NEXN (T666A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 667367	NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter)	CDC14A (R116* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 40470	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS (G12V)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic OOncogenic
Select item 162809	NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)	CASQ2 (E377D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44167	NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)	CASQ2 (I161V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 162819	NM_001232.4(CASQ2):c.234+3A>G	CASQ2	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 505377	NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)	GBA1, LOC106627981 (E427* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease	GLikely pathogenic
Select item 48069	NM_170707.4(LMNA):c.513+1G>C	LMNA, LOC126805877	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 66800	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA (Q432* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 165533	NM_001276345.2(TNNT2):c.851+1G>T	TNNT2	Single nucleotide variant (splice donor variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GPathogenic/Likely pathogenic
Select item 229338	NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro)	TNNT2 (R205P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 43612	NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)	TNNT2 (A36P +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48451	NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)	USH2A (A4987V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 177760	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A (R4935*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic
Select item 48443	NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)	USH2A (T4844M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48438	NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)	USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 179774	NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)	USH2A (G4293S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 504700	NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)	USH2A (E4209K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667355	NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro)	USH2A (A3866P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 48363	NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)	USH2A (V3645I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	See cases +6 more	GPathogenic/Likely pathogenic
Select item 197607	NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)	USH2A (R3134Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228416	NM_206933.4(USH2A):c.8681+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 504702	NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)	USH2A (S2867L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 179542	NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	USH2A (G2726E)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166474	NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr)	USH2A (P2435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 48569	NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)	USH2A (P2241S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48502	NM_206933.4(USH2A):c.3435del (p.Val1147fs)	USH2A, USH2A-AS1 (V1147fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
Select item 48491	NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	LOC122152296, USH2A (R926H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 557167	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	LOC122152296, USH2A (C870*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 48485	NM_206933.4(USH2A):c.2167+4C>T	USH2A	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 48480	NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)	USH2A (S652G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 48479	NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile)	USH2A (T645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 48469	NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)	USH2A (Q519R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 48342	NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)	USH2A (R334G)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 48625	NM_206933.4(USH2A):c.938C>A (p.Pro313His)	USH2A (P313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 179225	NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)	USH2A (R274Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +10 more	GConflicting classifications of pathogenicity
Select item 228438	NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys)	ACTN2 (R299C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 179767	NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)	ACTN2 (H633Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1AA +5 more	GConflicting classifications of pathogenicity
Select item 43774	NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)	RYR2 (R122C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 229228	NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)	RYR2 (R332W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 505337	NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)	RYR2 (T1425M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 43799	NM_001035.3(RYR2):c.5005A>G (p.Asn1669Asp)	RYR2 (N1669D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165099	NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)	RYR2 (N1669S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 179595	NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)	RYR2 (R2359Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 178123	NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)	RYR2 (N3207D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 4371	NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	NLRP3 (V198M +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 97989	NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)	NLRP3 (I315V +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +7 more	GConflicting classifications of pathogenicity
Select item 48244	NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)	OTOF (R1641H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48255	NM_194248.3(OTOF):c.514G>A (p.Gly172Arg)	OTOF (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 164878	NM_194248.3(OTOF):c.337T>C (p.Cys113Arg)	OTOF (C113R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 505602	NM_000379.4(XDH):c.1686+1G>C	XDH	Single nucleotide variant (splice donor variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 40726	NM_005633.4(SOS1):c.3347-1G>A	SOS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +7 more	GUncertain significance
Select item 240197	NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)	SOS1 (D1108N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 179117	NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)	SOS1 (V574I +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 162463	NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)	SOS1 (Y337C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 45381	NM_005633.4(SOS1):c.929G>A (p.Arg310His)	SOS1 (R310H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 45377	NM_005633.4(SOS1):c.841A>G (p.Ser281Gly)	SOS1 (S281G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 45376	NM_005633.4(SOS1):c.668T>C (p.Ile223Thr)	SOS1 (I223T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 40655	NM_005633.4(SOS1):c.570C>T (p.Asp190=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45374	NM_005633.4(SOS1):c.553A>G (p.Ile185Val)	SOS1 (I185V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 45364	NM_005633.4(SOS1):c.350T>G (p.Val117Gly)	SOS1 (V117G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 89369	NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)	MSH6 (T1100M +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 44224	NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala)	ATP6V1B1 (V433A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 210126	NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	ALMS1 (Y680C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178807	NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu)	SFTPB (G183E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 667315	NM_012233.3(RAB3GAP1):c.2773C>T (p.Gln925Ter)	RAB3GAP1 (Q932* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 229562	NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr)	TTN, TTN-AS1 (R31373T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 179737	NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile)	TTN, TTN-AS1 (V30153I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 179162	NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)	TTN, TTN-AS1 (E30144* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 229551	NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)	TTN, TTN-AS1 (P29832T +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47513	NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)	TTN, TTN-AS1 (G30541R +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 178172	NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)	TTN, TTN-AS1 (T27508M +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 47448	NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)	TTN, TTN-AS1 (I28582K +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178915	NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)	TTN, TTN-AS1 (L24621V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179910	NM_001267550.2(TTN):c.80006G>A (p.Ser26669Asn)	TTN, TTN-AS1 (S24101N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 467501	NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly)	TTN, TTN-AS1 (S25728G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 506019	NM_001267550.2(TTN):c.73540G>T (p.Val24514Phe)	TTN, TTN-AS1 (V21946F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 467420	NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg)	TTN, TTN-AS1 (G23173R +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 47266	NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe)	LOC126806423, TTN +1 more (S22761F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47157	NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	LOC126806424, TTN +1 more (D20002G +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 517395	NM_001267550.2(TTN):c.56801T>A (p.Val18934Asp)	TTN, TTN-AS1 (V16366D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 46995	NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)	TTN (K15355N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 46994	NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)	TTN (E15299K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 505989	NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly)	TTN (A12276G +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 166050	NM_001267550.2(TTN):c.44104G>C (p.Asp14702His)	TTN (D12134H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 179460	NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)	TTN (C11812R +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 166102	NM_001267550.2(TTN):c.34709-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GUncertain significance
Select item 229414	NM_001267550.2(TTN):c.31207+5G>A	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 178242	NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)	TTN (C5939Y +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 179801	NM_001267550.2(TTN):c.19282A>T (p.Ser6428Cys)	TTN (S5184C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 179589	NM_001267550.2(TTN):c.16895T>C (p.Ile5632Thr)	LOC126806431, TTN (I4388T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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