ClinVar for PubMed (Select 27930701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3072567	NM_000256.3(MYBPC3):c.1598A>G (p.Gln533Arg)	MYBPC3 (Q533R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2851583	NM_000335.5(SCN5A):c.1440A>C (p.Lys480Asn)	SCN5A (K480N)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1776685	NM_020433.5(JPH2):c.1625G>A (p.Arg542His)	JPH2 (R542H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755170	NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)	TNNT2 (A34V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1748159	NM_001267550.2(TTN):c.82546T>A (p.Trp27516Arg)	TTN, TTN-AS1 (W25875R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744087	NM_001267550.2(TTN):c.76382T>C (p.Ile25461Thr)	TTN, TTN-AS1 (I16521T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1516107	NM_005477.3(HCN4):c.2452G>A (p.Gly818Ser)	HCN4 (G818S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 959753	NM_004415.4(DSP):c.8402G>A (p.Arg2801His)	DSP (R2358H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 922079	NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)	FBN1 (R1388L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 910568	NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	DSP (R105Q)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +9 more	GConflicting classifications of pathogenicity
Select item 654549	NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)	FBN1 (P392R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 632634	NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)	ANK2 (N1638D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 575705	NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	MYBPC3 (R726C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 575658	NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser)	CACNA1C (N550S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 568778	NM_003673.4(TCAP):c.171C>G (p.Cys57Trp)	TCAP (C57W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 567587	NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)	TTN, TTN-AS1 (T27357R +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 547319	NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)	FBN1 (R1388H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 496252	NM_004415.4(DSP):c.946A>G (p.Met316Val)	DSP (M316V)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 468754	NM_002230.4(JUP):c.475G>T (p.Val159Leu)	JUP (V159L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 467418	NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	LOC126806433, TTN (R2317H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 427964	NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)	DSC2 (S868F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GConflicting classifications of pathogenicity
Select item 424574	NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)	DSP (R2166Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412790	NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg)	HCN4 (Q737R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 406497	NM_001148.6(ANK2):c.11326A>G (p.Thr3776Ala)	ANK2 (T3776A +43 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 373800	NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)	ACTN2 (R662W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 284097	NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)	TTN (E10254del +2 more)	Microsatellite (inframe_deletion +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 264440	NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)	HCN4 (F910L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 264374	NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)	MYH6 (E1204D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 240167	NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg)	HCN4 (G980R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 238827	NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)	TTN, TTN-AS1 (A22144T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 229551	NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)	TTN, TTN-AS1 (P29832T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 228890	NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)	MYH6 (R1143Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 228471	NM_001232.3(CASQ2):c.[730C>T;731A>G]	CASQ2 (H244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227210	NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)	CASQ2 (H244Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 203272	NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)	LOC126806430, TTN (A5867T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 202824	NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile)	LOC126806422, TTN +1 more (V21789I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GUncertain significance
Select item 202424	NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)	TTN, TTN-AS1 (R29132* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 201999	NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)	PKP2 (E624D +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201961	NM_001005242.3(PKP2):c.611G>A (p.Arg204His)	PKP2 (R204H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 201645	NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln)	ACTN2 (R662Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 200064	NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)	FBN1 (G1815S)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significanceFDA Recognized database
Select item 197406	NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)	CACNA1C, CACNA1C-AS1 (A1648T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 191675	NM_002230.4(JUP):c.526C>T (p.Arg176Trp)	JUP (R176W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 191546	NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	LOC126806068, RYR2 (R4307C)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +6 more	GConflicting classifications of pathogenicity
Select item 190774	NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)	HCN4 (R934C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 190626	NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)	CACNA1C-AS1, CACNA1C (R1962Q +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 190576	NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln)	ANK2 (E1556Q +43 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180520	NM_000335.5(SCN5A):c.1140+1G>A	SCN5A	Single nucleotide variant (splice donor variant)	Brugada syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 180519	NM_000335.5(SCN5A):c.393-5C>A	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 180369	NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)	GPD1L (E174K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179756	NM_002230.4(JUP):c.56C>T (p.Thr19Ile)	JUP (T19I)	Single nucleotide variant (missense variant)	Naxos disease +5 more	GConflicting classifications of pathogenicity
Select item 179656	NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	MYH7 (E1205K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 179026	NM_001005242.3(PKP2):c.1379-2019C>T	PKP2 (R490W)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 178278	NM_001267550.2(TTN):c.289G>A (p.Val97Met)	TTN (V97M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 178195	NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)	TTN, TTN-AS1 (G20387A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 177638	NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)	MYBPC3 (R35W)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +7 more	GConflicting classifications of pathogenicity
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 164304	NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)	MYH7 (R1079W)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 162810	NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	CASQ2 (D310N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GConflicting classifications of pathogenicity
Select item 161332	NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)	PKP2 (Q62K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 161224	NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)	DSG2 (G638R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +6 more	GConflicting classifications of pathogenicity
Select item 96321	NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)	TTN, TTN-AS1 (I29929T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 96294	NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	LOC126806425, TTN +1 more (N17512K +4 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 68005	NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)	SCN5A (R190Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 67691	NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)	SCN5A (G615E)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 67639	NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	SCN5A (R376H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GPathogenic/Likely pathogenic
Select item 67454	NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)	KCNH2 (S641G +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 67444	NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)	KCNH2 (R614C +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 47639	NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	TTN, TTN-AS1 (V33889I +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 47483	NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)	TTN, TTN-AS1 (R29574H +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 47432	NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)	TTN, TTN-AS1 (S28088N +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 47407	NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)	TTN, TTN-AS1 (P27361A +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +9 more	GBenign/Likely benign
Select item 47404	NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)	TTN-AS1, TTN (R27300H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 47361	NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)	TTN, TTN-AS1 (W25938S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 47312	NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)	TTN-AS1, TTN (E24127K +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 47256	NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	TTN (R1998H +1 more)	Single nucleotide variant (missense variant)	TTN-related myopathy +9 more	GConflicting classifications of pathogenicity
Select item 47106	NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)	TTN, TTN-AS1 (K18518R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 46915	NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)	TTN (P12478S +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 46853	NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)	TTN (P10586Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 46832	NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	TTN (H10092Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46688	NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)	TTN (R7223H +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 46682	NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	LOC126806428, TTN (G7058D +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 46675	NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)	TTN (G6933A +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 46598	NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)	TTN (V5060I +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 6 +8 more	GConflicting classifications of pathogenicity
Select item 44278	NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	DSG2 (T335A)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 44275	NM_001927.4(DES):c.935A>C (p.Asp312Ala)	DES (D312A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 42959	NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)	MYH7 (A1128T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benignFDA Recognized database
Select item 42710	NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)	MYBPC3 (E1128D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42566	NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)	MYBPC3 (G596R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36130	NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)	FBN1, LOC130057019 (N28S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 12659	NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	TTN (R279W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity

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