ClinVar for MedGen (Select 1644766) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325726	NM_003242.6(TGFBR2):c.905A>T (p.Glu302Val)	TGFBR2 (E267V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325725	NM_003242.6(TGFBR2):c.371A>G (p.Lys124Arg)	TGFBR2 (K89R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325724	NM_003242.6(TGFBR2):c.467G>A (p.Ser156Asn)	TGFBR2 (S217N +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3325723	NM_003242.6(TGFBR2):c.39C>A (p.His13Gln)	TGFBR2 (H13Q)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325722	NM_003242.6(TGFBR2):c.871A>G (p.Lys291Glu)	TGFBR2 (K292E +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325721	NM_003242.6(TGFBR2):c.392A>G (p.Glu131Gly)	TGFBR2 (E140G +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325720	NM_003242.6(TGFBR2):c.1538T>C (p.Val513Ala)	TGFBR2 (V514A +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3325719	NM_003242.6(TGFBR2):c.1344C>T (p.Tyr448=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3325718	NM_003242.6(TGFBR2):c.679A>G (p.Ile227Val)	TGFBR2 (I227V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325717	NM_003242.6(TGFBR2):c.838C>T (p.Pro280Ser)	TGFBR2 (P280S +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325716	NM_004612.4(TGFBR1):c.175A>C (p.Thr59Pro)	TGFBR1 (T59P)	Single nucleotide variant (missense variant +3 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325715	NM_004612.4(TGFBR1):c.638A>G (p.Lys213Arg)	TGFBR1 (K131R +6 more)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325714	NM_004612.4(TGFBR1):c.1385A>T (p.Glu462Val)	TGFBR1 (E466V +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325713	NM_004612.4(TGFBR1):c.228C>T (p.Asp76=)	TGFBR1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3325711	NM_004612.4(TGFBR1):c.1052A>G (p.Asp351Gly)	TGFBR1 (D192G +9 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3325701	NM_003239.5(TGFB3):c.920G>C (p.Cys307Ser)	TGFB3 (C307S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325700	NM_003239.5(TGFB3):c.554A>G (p.Tyr185Cys)	TGFB3 (Y185C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325699	NM_003239.5(TGFB3):c.337_344delinsTAAGAATTT (p.Gly113_Ala115delinsTer)	TGFB3	Indel (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3325698	NM_003239.5(TGFB3):c.517-1G>T	TGFB3	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3325697	NM_003239.5(TGFB3):c.200A>T (p.Tyr67Phe)	TGFB3 (Y67F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325695	NM_003238.6(TGFB2):c.5A>G (p.His2Arg)	TGFB2 (H2R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325694	NM_003238.6(TGFB2):c.458G>C (p.Arg153Pro)	TGFB2 (R153P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325693	NM_003238.6(TGFB2):c.622C>G (p.His208Asp)	TGFB2 (H208D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325692	NM_003238.6(TGFB2):c.558C>A (p.Asp186Glu)	TGFB2 (D214E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325691	NM_003238.6(TGFB2):c.491A>G (p.Gln164Arg)	TGFB2 (Q164R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325690	NM_003238.6(TGFB2):c.1106C>T (p.Thr369Ile)	TGFB2 (T369I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3320633	NM_005902.4(SMAD3):c.178G>A (p.Val60Ile)	SMAD3 (V60I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3320632	NM_005902.4(SMAD3):c.87A>G (p.Lys29=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3320630	NM_005902.4(SMAD3):c.1236C>T (p.Thr412=)	SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3319437	NM_030777.4(SLC2A10):c.352G>A (p.Ala118Thr)	SLC2A10 (A118T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3319436	NM_030777.4(SLC2A10):c.344C>A (p.Ser115Tyr)	SLC2A10 (S115Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3319434	NM_030777.4(SLC2A10):c.1455C>G (p.Thr485=)	SLC2A10	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3319433	NM_030777.4(SLC2A10):c.892G>A (p.Ala298Thr)	SLC2A10 (A298T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3319432	NM_030777.4(SLC2A10):c.1079A>T (p.Asn360Ile)	SLC2A10 (N360I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3319431	NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)	SLC2A10 (M1L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 3318712	NM_003036.4(SKI):c.1650G>T (p.Glu550Asp)	SKI (E550D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318711	NM_003036.4(SKI):c.1634T>C (p.Leu545Pro)	SKI (L545P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318710	NM_003036.4(SKI):c.442A>T (p.Ile148Phe)	SKI (I148F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318709	NM_003036.4(SKI):c.1857C>T (p.Leu619=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318708	NM_003036.4(SKI):c.2062C>T (p.Leu688=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318707	NM_003036.4(SKI):c.1164G>C (p.Ala388=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318706	NM_003036.4(SKI):c.309C>T (p.Thr103=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318705	NM_003036.4(SKI):c.1975C>G (p.Leu659Val)	SKI (L659V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318704	NM_003036.4(SKI):c.262G>C (p.Gly88Arg)	SKI (G88R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318703	NM_003036.4(SKI):c.332C>G (p.Ser111Trp)	SKI (S111W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318702	NM_003036.4(SKI):c.1558G>A (p.Ala520Thr)	SKI (A520T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318700	NM_003036.4(SKI):c.14C>G (p.Ala5Gly)	SKI (A5G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3318699	NM_003036.4(SKI):c.1633C>T (p.Leu545=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3318698	NM_003036.4(SKI):c.441C>T (p.His147=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3310207	NM_006258.4(PRKG1):c.1727C>A (p.Pro576Gln)	PRKG1 (P561Q +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3310206	NM_006258.4(PRKG1):c.1265G>A (p.Arg422His)	PRKG1 (R407H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3310204	NM_006258.4(PRKG1):c.389T>G (p.Ile130Ser)	PRKG1 (I115S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3310203	NM_006258.4(PRKG1):c.708A>T (p.Thr236=)	PRKG1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3310202	NM_006258.4(PRKG1):c.44T>A (p.Ile15Asn)	PRKG1 (I15N)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3310201	NM_006258.4(PRKG1):c.306C>A (p.Ser102Arg)	PRKG1 (S102R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3310200	NM_006258.4(PRKG1):c.1834G>A (p.Asp612Asn)	PRKG1 (D209N +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307807	NM_000302.4(PLOD1):c.1106G>T (p.Cys369Phe)	PLOD1 (C369F +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307806	NM_000302.4(PLOD1):c.1802T>C (p.Ile601Thr)	PLOD1 (I601T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307805	NM_000302.4(PLOD1):c.1364A>C (p.Tyr455Ser)	PLOD1 (Y502S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307803	NM_000302.4(PLOD1):c.706C>A (p.Leu236Ile)	PLOD1 (L283I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307802	NM_000302.4(PLOD1):c.1807A>G (p.Met603Val)	PLOD1 (M650V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307801	NM_000302.4(PLOD1):c.1566G>A (p.Glu522=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3307800	NM_000302.4(PLOD1):c.1210A>G (p.Ile404Val)	PLOD1 (I404V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3307798	NM_000302.4(PLOD1):c.1761C>G (p.Asn587Lys)	PLOD1 (N634K +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300486	NM_017617.5(NOTCH1):c.5093A>T (p.Asp1698Val)	NOTCH1 (D1698V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300485	NM_017617.5(NOTCH1):c.4939C>G (p.Gln1647Glu)	NOTCH1 (Q1647E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300484	NM_017617.5(NOTCH1):c.6890C>T (p.Thr2297Ile)	NOTCH1 (T2297I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300483	NM_017617.5(NOTCH1):c.7327G>A (p.Val2443Met)	NOTCH1 (V2443M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300480	NM_017617.5(NOTCH1):c.6423G>C (p.Ser2141=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300479	NM_017617.5(NOTCH1):c.57A>G (p.Ala19=)	LOC130003020, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300478	NM_017617.5(NOTCH1):c.6562G>C (p.Gly2188Arg)	NOTCH1 (G2188R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300477	NM_017617.5(NOTCH1):c.1736C>T (p.Ser579Phe)	NOTCH1 (S579F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300476	NM_017617.5(NOTCH1):c.6944A>T (p.Gln2315Leu)	NOTCH1 (Q2315L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300475	NM_017617.5(NOTCH1):c.3088T>C (p.Cys1030Arg)	NOTCH1 (C1030R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300474	NM_017617.5(NOTCH1):c.1867A>C (p.Asn623His)	NOTCH1 (N623H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300472	NM_017617.5(NOTCH1):c.2904G>A (p.Thr968=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300471	NM_017617.5(NOTCH1):c.5280C>T (p.Arg1760=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300470	NM_017617.5(NOTCH1):c.5716G>C (p.Ala1906Pro)	NOTCH1 (A1906P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300469	NM_017617.5(NOTCH1):c.5587C>A (p.Pro1863Thr)	NOTCH1 (P1863T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300468	NM_017617.5(NOTCH1):c.4760A>G (p.Asn1587Ser)	NOTCH1 (N1587S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300466	NM_017617.5(NOTCH1):c.371A>C (p.Glu124Ala)	NOTCH1 (E124A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300465	NM_017617.5(NOTCH1):c.3697T>C (p.Ser1233Pro)	NOTCH1 (S1233P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300464	NM_017617.5(NOTCH1):c.4104C>T (p.Arg1368=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300463	NM_017617.5(NOTCH1):c.4131C>T (p.Pro1377=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300462	NM_017617.5(NOTCH1):c.6018C>A (p.Ala2006=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300460	NM_017617.5(NOTCH1):c.6190C>G (p.Pro2064Ala)	NOTCH1 (P2064A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300459	NM_017617.5(NOTCH1):c.7583A>G (p.Asn2528Ser)	NOTCH1 (N2528S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300458	NM_017617.5(NOTCH1):c.4231T>C (p.Phe1411Leu)	NOTCH1 (F1411L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300457	NM_017617.5(NOTCH1):c.1865A>G (p.Asp622Gly)	NOTCH1 (D622G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300456	NM_017617.5(NOTCH1):c.6700C>G (p.Leu2234Val)	NOTCH1 (L2234V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300454	NM_017617.5(NOTCH1):c.1206G>C (p.Ser402=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300453	NM_017617.5(NOTCH1):c.4669G>A (p.Asp1557Asn)	NOTCH1 (D1557N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300452	NM_017617.5(NOTCH1):c.5469C>A (p.Phe1823Leu)	NOTCH1 (F1823L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300451	NM_017617.5(NOTCH1):c.6107C>G (p.Ala2036Gly)	LOC126860794, NOTCH1 (A2036G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300450	NM_017617.5(NOTCH1):c.3285C>G (p.Asp1095Glu)	NOTCH1 (D1095E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300449	NM_017617.5(NOTCH1):c.6523G>A (p.Asp2175Asn)	NOTCH1 (D2175N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300447	NM_017617.5(NOTCH1):c.5988G>C (p.Thr1996=)	LOC126860794, NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3300446	NM_017617.5(NOTCH1):c.5764A>G (p.Asn1922Asp)	NOTCH1 (N1922D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3300445	NM_017617.5(NOTCH1):c.5563A>G (p.Met1855Val)	NOTCH1 (M1855V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3300444	NM_017617.5(NOTCH1):c.4682G>C (p.Cys1561Ser)	NOTCH1 (C1561S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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