ClinVar for MedGen (Select 976464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594965	NM_014251.3(SLC25A13):c.15+2T>G	LOC129998833, SLC25A13	Single nucleotide variant (splice donor variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594964	NM_014251.3(SLC25A13):c.247del (p.Ser83fs)	SLC25A13 (S83fs)	Deletion (frameshift variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594963	NM_014251.3(SLC25A13):c.762del (p.Phe254fs)	SLC25A13 (F254fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594962	NM_014251.3(SLC25A13):c.762_765del (p.Val255fs)	SLC25A13 (V255fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594961	NM_014251.3(SLC25A13):c.931C>T (p.Gln311Ter)	SLC25A13 (Q311*)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594960	NM_014251.3(SLC25A13):c.1046T>C (p.Ile349Thr)	SLC25A13 (I349T +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594959	NM_014251.3(SLC25A13):c.1113T>G (p.Tyr371Ter)	SLC25A13 (Y372* +1 more)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594958	NM_014251.3(SLC25A13):c.1688_1689del (p.Ile563fs)	SLC25A13 (I564fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3594957	NM_014251.3(SLC25A13):c.1796_1802del (p.Thr599fs)	SLC25A13 (T599fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GLikely pathogenic
Select item 3336478	NM_014251.3(SLC25A13):c.1793T>G (p.Leu598Arg)	SLC25A13 (L598R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +2 more	GPathogenic
Select item 3240481	NM_014251.3(SLC25A13):c.264del (p.Asp89fs)	SLC25A13 (D89fs)	Deletion (frameshift variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240480	NM_014251.3(SLC25A13):c.15+2_15+11del	LOC129998833, SLC25A13	Deletion (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240479	NM_014251.3(SLC25A13):c.755-2A>G	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset	GPathogenic
Select item 3240478	NM_014251.3(SLC25A13):c.1817G>A (p.Trp606Ter)	SLC25A13 (W606* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240477	NM_014251.3(SLC25A13):c.72T>G (p.Tyr24Ter)	SLC25A13 (Y24*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3240476	NM_014251.3(SLC25A13):c.220del (p.Ser74fs)	SLC25A13 (S74fs)	Deletion (frameshift variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 3064539	NM_014251.3(SLC25A13):c.655T>C (p.Tyr219His)	SLC25A13 (Y219H)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset	GUncertain significance
Select item 3018592	NM_014251.3(SLC25A13):c.1178-1G>C	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrin deficiency +2 more	GLikely pathogenic
Select item 2735056	NM_014251.3(SLC25A13):c.615+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +1 more	GPathogenic
Select item 2678845	NM_014251.3(SLC25A13):c.70-2A>T	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678844	NM_014251.3(SLC25A13):c.889del (p.Glu297fs)	SLC25A13 (E297fs)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678843	NM_014251.3(SLC25A13):c.74C>A (p.Ala25Glu)	SLC25A13 (A25E)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678842	NM_014251.3(SLC25A13):c.577dup (p.His193fs)	SLC25A13 (H193fs)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678841	NM_014251.3(SLC25A13):c.836_837del (p.Leu278_Tyr279insTer)	SLC25A13	Microsatellite (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678840	NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)	SLC25A13 (R455L +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +2 more	GConflicting classifications of pathogenicity
Select item 2678839	NM_014251.3(SLC25A13):c.1174_1177delinsT (p.Arg392_Gly393delinsCys)	SLC25A13	Indel (inframe_indel +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678838	NM_014251.3(SLC25A13):c.1311+2dup	SLC25A13	Duplication (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678837	NM_014251.3(SLC25A13):c.587_588insAA (p.Pro197fs)	SLC25A13 (P197fs)	Insertion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678836	NM_014251.3(SLC25A13):c.331_334delinsAGAAACTCT (p.Asp111fs)	SLC25A13 (D111fs)	Indel (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678835	NM_014251.3(SLC25A13):c.848+1del	SLC25A13	Deletion (splice donor variant)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2678834	NM_014251.3(SLC25A13):c.1069C>T (p.Gln357Ter)	SLC25A13 (Q357* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678833	NM_014251.3(SLC25A13):c.213-1G>C	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678832	NM_014251.3(SLC25A13):c.1498del (p.Tyr500fs)	SLC25A13 (Y500fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678831	NM_014251.3(SLC25A13):c.925C>T (p.Gln309Ter)	SLC25A13 (Q309*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678830	NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)	SLC25A13 (L398* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GPathogenic
Select item 2678829	NM_014251.3(SLC25A13):c.1824dup (p.Ile609fs)	SLC25A13 (I609fs +1 more)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678828	NM_014251.3(SLC25A13):c.1176_1177+1delinsT	SLC25A13	Indel (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678827	NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)	SLC25A13 (N30fs)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 2678826	NM_014251.3(SLC25A13):c.1750+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678825	NM_014251.3:c.468+4958_502del	SLC25A13	Deletion	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678824	NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)	SLC25A13 (W579* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GPathogenic
Select item 2678823	NM_014251.3(SLC25A13):c.1591+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678822	NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)	SLC25A13 (Y600* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GPathogenic
Select item 2678821	NM_014251.3(SLC25A13):c.1108_1109del (p.Met370fs)	SLC25A13 (M370fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678820	NM_014251.3(SLC25A13):c.353del (p.Gln118fs)	SLC25A13 (Q118fs)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678819	NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)	SLC25A13 (L537fs +1 more)	Indel (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GPathogenic
Select item 2678818	NM_014251.3(SLC25A13):c.671del (p.Asn224fs)	SLC25A13 (N224fs)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678817	NM_014251.3(SLC25A13):c.1453-1G>C	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678816	NM_014251.3(SLC25A13):c.1549C>T (p.Gln517Ter)	SLC25A13 (Q517* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678815	NM_014251.3(SLC25A13):c.1841+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678814	NM_014251.3(SLC25A13):c.1637del (p.Thr546fs)	SLC25A13 (T546fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678813	NM_014251.3(SLC25A13):c.231_240del (p.Glu77fs)	SLC25A13 (E77fs)	Deletion (frameshift variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678812	NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)	SLC25A13 (I290T)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 2678811	NM_014251.3(SLC25A13):c.1039_1061delinsA (p.Tyr347fs)	SLC25A13 (Y347fs +1 more)	Indel (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678810	NM_014251.3(SLC25A13):c.505C>T (p.Gln169Ter)	SLC25A13 (Q169*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 2678809	NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)	SLC25A13 (Y559* +1 more)	Duplication (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 2577098	NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)	SLC25A13 (M35V)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GLikely pathogenic
Select item 2504051	NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)	SLC25A13 (G436E +1 more)	Indel (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GLikely pathogenic
Select item 2433409	NM_014251.3(SLC25A13):c.1615dup (p.Thr539fs)	SLC25A13 (T539fs +1 more)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 2193074	NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)	SLC25A13 (Y331* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2075890	NM_014251.3(SLC25A13):c.1311+1G>C	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +2 more	GPathogenic
Select item 1929400	NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)	SLC25A13 (S590* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1696310	NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)	SLC25A13 (E404* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +2 more	GLikely pathogenic
Select item 1496431	NM_014251.3(SLC25A13):c.15+1G>A	LOC129998833, SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 1467165	NM_014251.3(SLC25A13):c.1178-1G>T	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 1459462	NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)	SLC25A13 (E77*)	Single nucleotide variant (nonsense)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1459278	NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)	SLC25A13 (Q556fs +1 more)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1458046	NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs)	SLC25A13 (V204fs)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic/Likely pathogenic
Select item 1451920	NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	SLC25A13 (E252K)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +3 more	GPathogenic/Likely pathogenic
Select item 1451917	NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)	SLC25A13 (F365fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic
Select item 1450311	NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)	SLC25A13 (Q324* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic/Likely pathogenic
Select item 1388183	NM_014251.3(SLC25A13):c.1453-2A>T	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +2 more	GPathogenic
Select item 1362972	NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)	SLC25A13 (R177fs)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1361947	NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)	SLC25A13 (R43*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1348003	NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	SLC25A13 (T546R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +3 more	GConflicting classifications of pathogenicity
Select item 1339499	NM_054012.4(ASS1):c.364-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +1 more	GPathogenic
Select item 1323603	NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter)	SLC25A13 (Y391* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1209794	NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr)	SLC25A13 (A25T)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GUncertain significance
Select item 1207220	NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)	SLC25A13 (G386A +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GUncertain significance
Select item 1076508	NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)	SLC25A13 (R144fs)	Deletion (frameshift variant +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1075398	NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)	SLC25A13 (R355G +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GPathogenic
Select item 1074885	NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter)	SLC25A13 (Y559* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 1074032	NM_014251.3(SLC25A13):c.276del (p.Phe92fs)	SLC25A13 (F92fs)	Deletion (frameshift variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1069536	NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)	SLC25A13 (C437* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1068359	NM_014251.3(SLC25A13):c.1750+1G>C	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +1 more	GLikely pathogenic
Select item 1067978	NM_014251.3(SLC25A13):c.1231-1G>A	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 967116	NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)	SLC25A13 (V474M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +4 more	GUncertain significance
Select item 939098	NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)	SLC25A13 (R467* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +3 more	GPathogenic
Select item 934709	NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)	SLC25A13 (T546M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +2 more	GLikely pathogenic
Select item 860951	NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)	SLC25A13 (L399* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic
Select item 855835	NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)	SLC25A13 (D351N +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +3 more	GPathogenic/Likely pathogenic
Select item 850379	NM_014251.3(SLC25A13):c.848+3A>C	SLC25A13	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 849656	NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)	SLC25A13 (L45F)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 838520	NM_014251.3(SLC25A13):c.571del (p.Arg191fs)	SLC25A13 (R191fs)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 813455	NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	SLC25A13 (V411M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 813454	NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro)	SLC25A13 (T446P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802338	NM_014251.3(SLC25A13):c.848+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 664925	NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)	SLC25A13 (R589* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 596568	NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)	SLC25A13 (S62N)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GUncertain significance
Select item 596092	NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	SLC25A13 (V452I +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +3 more	GConflicting classifications of pathogenicity

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