ClinVar for MedGen (Select 766850) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627659	NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]	GNMT, PEX6 (R860W +1 more)	Microsatellite (3 prime UTR variant +2 more)	Peroxisome biogenesis disorder 4B	GPathogenic
Select item 2572543	NM_000287.4(PEX6):c.600del (p.Thr201fs)	PEX6 (T201fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 2498077	NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)	PEX6 (G621fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1804023	NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)	PEX6 (K801E +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GPathogenic
Select item 1726525	NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)	PEX6 (A668fs +1 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726393	NM_000287.4(PEX6):c.872_873del (p.Leu291fs)	PEX6 (L291fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726221	NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)	PEX6 (L586fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726126	NM_000287.4(PEX6):c.1119del (p.Lys374fs)	PEX6 (K286fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1726080	NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)	PEX6 (L380fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725784	NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)	PEX6 (E631fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725756	NM_000287.4(PEX6):c.2289del (p.Thr764fs)	PEX6 (T676fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725636	NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)	PEX6 (L209* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725571	NM_000287.4(PEX6):c.1315del (p.Glu439fs)	PEX6 (E351fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725421	NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)	PEX6 (Q634fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725230	NM_000287.4(PEX6):c.2563del (p.Asp855fs)	PEX6 (D767fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725211	NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)	PEX6 (V459fs +1 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725182	NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)	PEX6 (P288fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725064	NM_000287.4(PEX6):c.2227del (p.His743fs)	PEX6 (H655fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1725046	NM_000287.4(PEX6):c.954del (p.Arg319fs)	PEX6 (R231fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724922	NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)	PEX6 (E684fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724845	NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)	PEX6 (A568fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724632	NM_000287.4(PEX6):c.1094del (p.Val365fs)	PEX6 (V277fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1724588	NM_000287.4(PEX6):c.2361del (p.Val788fs)	PEX6 (V700fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1723985	NM_000287.4(PEX6):c.2462del (p.Val821fs)	PEX6 (V733fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1701971	NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)	PEX6 (S222L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1701970	NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)	PEX6 (Q740* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 1683990	NM_000287.4(PEX6):c.2663G>A (p.Arg888His)	PEX6 (R800H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1519294	NM_000287.4(PEX6):c.2080G>A (p.Val694Ile)	PEX6 (V606I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GUncertain significance
Select item 1496142	NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp)	PEX6 (R626W +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1369876	NM_000287.4(PEX6):c.1415del (p.Pro472fs)	PEX6 (P384fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1181155	NM_000287.4(PEX6):c.2667-48G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign
Select item 1079984	NM_000287.4(PEX6):c.2854C>T (p.Leu952=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +3 more	GLikely benign
Select item 992065	NM_000287.4(PEX6):c.1236G>A (p.Val412=)	PEX6	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder +3 more	GUncertain significance
Select item 973865	NM_000287.4(PEX6):c.882+1G>A	PEX6	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GPathogenic
Select item 973460	NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)	PEX6 (S204*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4B +1 more	GPathogenic
Select item 972112	NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)	PEX6 (E664D +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 969820	NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)	PEX6 (R434Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 967518	NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)	PEX6 (A311T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GUncertain significance
Select item 933949	NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)	PEX6 (R458C +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GUncertain significance
Select item 931051	NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)	PEX6 (R888P +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 931050	NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)	PEX6	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 917829	NM_000287.4(PEX6):c.231C>A (p.Ser77Arg)	PEX6 (S77R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 911355	NM_000287.4(PEX6):c.106C>A (p.Leu36Met)	PEX6 (L36M)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 911354	NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)	PEX6 (P101R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 911291	NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)	PEX6 (R644Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 911290	NM_000287.4(PEX6):c.2471+5G>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 911150	NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)	PEX6 (R137P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 911149	NM_000287.4(PEX6):c.681G>A (p.Gln227=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 911083	NM_000287.4(PEX6):c.2547C>T (p.Asn849=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 911082	NM_000287.4(PEX6):c.2601G>T (p.Leu867=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 911081	NM_000287.4(PEX6):c.2642G>A (p.Arg881His)	PEX6 (R793H +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 911080	NM_000287.4(PEX6):c.2697A>G (p.Val899=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 909155	NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)	PEX6 (I274T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 909154	NM_000287.4(PEX6):c.1092A>G (p.Gln364=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 908378	NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)	PEX6 (P17T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 908377	NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)	PEX6 (G26R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 908306	NM_000287.4(PEX6):c.1367+10G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 908305	NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)	PEX6 (P472L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 908244	NM_000287.4(PEX6):c.*343G>C	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 857250	NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)	PEX6 (I845T +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GUncertain significance
Select item 845895	NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	PEX6 (A824V +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 802216	NM_000287.4(PEX6):c.510_511del (p.Asp172fs)	PEX6 (D172fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GPathogenic
Select item 794739	NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)	PEX6 (A79T)	Single nucleotide variant (missense variant +1 more)	PEX6-related condition +3 more	GConflicting classifications of pathogenicity
Select item 765698	NM_000287.4(PEX6):c.1365A>G (p.Pro455=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 632484	NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	PEX6 (R601W +1 more)	Single nucleotide variant (missense variant +1 more)	PEX6-related condition +4 more	GConflicting classifications of pathogenicity
Select item 631980	NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)	PEX6 (L57P)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 619217	NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)	PEX6 (P136fs)	Insertion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GLikely pathogenic
Select item 598162	NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)	PEX6 (I712fs +1 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder +2 more	GPathogenic
Select item 596380	NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)	PEX6 (E592Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 596185	NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)	PEX6 (R626Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 595189	NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)	PEX6 (V844A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 559074	NM_000287.4(PEX6):c.1885-24G>A	PEX6	Single nucleotide variant (intron variant)	Heimler syndrome 2 +3 more	GBenign
Select item 558266	NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)	PEX6 (A483del +1 more)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 557926	NM_000287.4(PEX6):c.1479+2del	PEX6	Deletion (splice donor variant)	Peroxisome biogenesis disorder +2 more	GLikely pathogenic
Select item 557825	NM_000287.4(PEX6):c.1234-1G>T	PEX6	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GLikely pathogenic
Select item 557701	NM_000287.4(PEX6):c.517del (p.Ser173fs)	PEX6 (S173fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +2 more	GPathogenic
Select item 557609	NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)	PEX6 (F12S)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 557579	NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)	PEX6 (P136fs)	Indel (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 556990	NM_000287.4(PEX6):c.2764_2765del (p.Met922fs)	PEX6 (M922fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 556911	NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)	PEX6 (E15fs)	Duplication (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 556748	NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	PEX6 (G413V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 556244	NM_000287.4(PEX6):c.2362G>A (p.Val788Met)	PEX6 (V788M +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 556094	NM_000287.4(PEX6):c.2806+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 555544	NM_000287.4(PEX6):c.385_388del (p.Glu129fs)	PEX6 (E129fs)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder +2 more	GPathogenic/Likely pathogenic
Select item 555443	NM_000287.4(PEX6):c.802_815del (p.Asp268fs)	PEX6 (D268fs)	Deletion (frameshift variant +2 more)	Heimler syndrome 2 +3 more	GPathogenic
Select item 555170	NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)	PEX6 (R812Q +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 555083	NM_000287.4(PEX6):c.2T>G (p.Met1Arg)	PEX6 (M1R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 554303	NM_000287.4(PEX6):c.506_507del (p.Glu169fs)	PEX6 (E169fs)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 553970	NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)	PEX6 (E45*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 553942	NM_000287.4(PEX6):c.1046+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 553545	NM_000287.4(PEX6):c.1368-2del	PEX6	Deletion (splice acceptor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GLikely pathogenic
Select item 553359	NM_000287.4(PEX6):c.2439dup (p.Arg814fs)	PEX6 (R726fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 553235	NM_000287.4(PEX6):c.2082del (p.Gly695fs)	PEX6 (G607fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 553033	NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)	PEX6	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 4B +2 more	GUncertain significance
Select item 553026	NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del)	PEX6	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 552800	NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del)	PEX6 (S184del)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 552327	NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)	PEX6	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 4B +3 more	GUncertain significance
Select item 552309	NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)	PEX6 (L742P +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GUncertain significance
Select item 552092	NM_000287.4(PEX6):c.541GTG[1] (p.Val182del)	PEX6 (V182del)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance

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