"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653529	NC_000002.12:g.(?_178663423)_(178804652_?)del	LOC126806432, LOC101927055 +6 more	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 666219	NC_000002.11:g.(?_179557214)_(179600811_?)dup	LOC126806428, LOC126806429 +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 137839	NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)	LOC126806430, TTN (I6321V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2940242	NM_001267550.2(TTN):c.18960T>C (p.Pro6320=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 535635	NM_001267550.2(TTN):c.18959C>A (p.Pro6320His)	LOC126806430, TTN (P6320H +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 748910	NM_001267550.2(TTN):c.18957T>C (p.Pro6319=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 404989	NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val)	LOC126806430, TTN (G6317V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2020310	NM_001267550.2(TTN):c.18942C>A (p.Thr6314=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1659400	NM_001267550.2(TTN):c.18942C>G (p.Thr6314=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 512226	NM_001267550.2(TTN):c.18942C>T (p.Thr6314=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GBenign/Likely benign
Select item 1601131	NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)	LOC126806430, TTN (S5069T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2922475	NM_001267550.2(TTN):c.18933T>C (p.Phe6311=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2015777	NM_001267550.2(TTN):c.18930C>G (p.Thr6310=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1587158	NM_001267550.2(TTN):c.18927C>T (p.Ala6309=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 46649	NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +8 more	GBenign
Select item 535438	NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg)	LOC126806430, TTN (K6296R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 699725	NM_001267550.2(TTN):c.18870A>G (p.Glu6290=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2028486	NM_001267550.2(TTN):c.18869-8A>C	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1535781	NM_001267550.2(TTN):c.18869-11T>C	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2923023	NM_001267550.2(TTN):c.18869-14_18869-13del	LOC126806430, TTN	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2945196	NM_001267550.2(TTN):c.18869-16T>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1563119	NM_001267550.2(TTN):c.18869-16T>A	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2940554	NM_001267550.2(TTN):c.18869-17C>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2934839	NM_001267550.2(TTN):c.18868+20G>A	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1541373	NM_001267550.2(TTN):c.18868+17G>T	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1091895	NM_001267550.2(TTN):c.18868+8A>T	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 46648	NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	LOC126806430, TTN (V6286I +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 698334	NM_001267550.2(TTN):c.18843A>G (p.Ser6281=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1108221	NM_001267550.2(TTN):c.18840C>T (p.Cys6280=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2123229	NM_001267550.2(TTN):c.18831C>A (p.Gly6277=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 46646	NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	LOC126806430, TTN (N6275S +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 46645	NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 179640	NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 466863	NM_001267550.2(TTN):c.18807C>T (p.Tyr6269=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1484054	NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)	LOC126806430, TTN (S5947* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 405169	NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr)	LOC126806430, TTN (C6261Y +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 282007	NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 46644	NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	LOC126806430, TTN (T6259S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 2942332	NM_001267550.2(TTN):c.18771T>C (p.His6257=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2922458	NM_001267550.2(TTN):c.18759G>A (p.Val6253=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2934184	NM_001267550.2(TTN):c.18753G>A (p.Val6251=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 46643	NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	LOC126806430, TTN (D6249N +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 669071	NM_001267550.2(TTN):c.18744C>T (p.Thr6248=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 466862	NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala)	LOC126806430, TTN (T6246A +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2050989	NM_001267550.2(TTN):c.18735C>T (p.Tyr6245=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1592876	NM_001267550.2(TTN):c.18720A>T (p.Arg6240=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 263663	NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 517037	NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)	LOC126806430, TTN (R5923Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 2193650	NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)	LOC126806430, TTN (R4996* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 390663	NM_001267550.2(TTN):c.18717T>A (p.Ile6239=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2942067	NM_001267550.2(TTN):c.18714A>G (p.Glu6238=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2951240	NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)	LOC126806430, TTN (R6237fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 466861	NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)	LOC126806430, TTN (R6237W +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1078721	NM_001267550.2(TTN):c.18705T>C (p.Asn6235=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 893970	NM_001267550.2(TTN):c.18690C>T (p.Val6230=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 466860	NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 516806	NM_001267550.2(TTN):c.18681G>A (p.Pro6227=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 749551	NM_001267550.2(TTN):c.18678T>A (p.Pro6226=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 405047	NM_001267550.2(TTN):c.18677C>A (p.Pro6226His)	LOC126806430, TTN (P6226H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1131557	NM_001267550.2(TTN):c.18675A>G (p.Thr6225=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 594414	NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 46642	NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)	LOC126806430, TTN (E6221D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46640	NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)	LOC126806430, TTN (C6220S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 466859	NM_001267550.2(TTN):c.18657G>A (p.Glu6219=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 448771	NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)	LOC126806430, TTN (E6219K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2944229	NM_001267550.2(TTN):c.18654G>C (p.Leu6218=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 508948	NM_001267550.2(TTN):c.18645C>T (p.Asp6215=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 2029630	NM_001267550.2(TTN):c.18642T>C (p.Ser6214=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 759084	NM_001267550.2(TTN):c.18639T>C (p.Tyr6213=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2947802	NM_001267550.2(TTN):c.18633A>T (p.Val6211=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1551319	NM_001267550.2(TTN):c.18630A>C (p.Val6210=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1090699	NM_001267550.2(TTN):c.18621T>G (p.Pro6207=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1329116	NM_001267550.2(TTN):c.18618G>A (p.Lys6206=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 1623595	NM_001267550.2(TTN):c.18612G>A (p.Glu6204=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 413157	NM_001267550.2(TTN):c.18609A>G (p.Arg6203=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1622941	NM_001267550.2(TTN):c.18600C>G (p.Thr6200=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1605883	NM_001267550.2(TTN):c.18597C>T (p.Pro6199=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 758397	NM_001267550.2(TTN):c.18597C>A (p.Pro6199=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1536427	NM_001267550.2(TTN):c.18591A>G (p.Glu6197=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1536349	NM_001267550.2(TTN):c.18590-4T>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 506806	NM_001267550.2(TTN):c.18590-14T>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2170923	NM_001267550.2(TTN):c.18590-16C>A	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2927312	NM_001267550.2(TTN):c.18590-19C>A	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1937764	NM_001267550.2(TTN):c.18590-20T>C	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1634730	NM_001267550.2(TTN):c.18589+18A>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1567267	NM_001267550.2(TTN):c.18589+11G>C	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2128082	NM_001267550.2(TTN):c.18589+10T>G	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1006182	NM_001267550.2(TTN):c.18589+5G>A	LOC126806430, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 535287	NM_001267550.2(TTN):c.18589+4C>T	LOC126806430, TTN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2951030	NM_001267550.2(TTN):c.18585G>A (p.Val6195=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1996541	NM_001267550.2(TTN):c.18570C>T (p.Ser6190=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2004524	NM_001267550.2(TTN):c.18561G>C (p.Ala6187=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 228062	NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 535073	NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val)	LOC126806430, TTN (A6187V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 702503	NM_001267550.2(TTN):c.18558G>A (p.Thr6186=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1078038	NM_001267550.2(TTN):c.18552A>T (p.Ala6184=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
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 238713	NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 46639	NM_001267550.2(TTN):c.18531G>C (p.Val6177=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GBenign/Likely benign
Select item 413041	NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign

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