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Items: 80

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Jan 26, 2016)
criteria provided, single submitter
2.
SDHDParagangliomas 1Pathogenic
(Nov 1, 2004)
no assertion criteria provided
3.
GRCh37:
Chr11:111957632
GRCh38:
Chr11:112086908
SDHDCarotid body paragangliomaPathogenic
(Apr 15, 2004)
no assertion criteria provided
4.
GRCh37:
Chr11:111957634
GRCh38:
Chr11:112086910
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Aug 30, 2012)
no assertion criteria provided
5.
GRCh37:
Chr11:111957641
GRCh38:
Chr11:112086917
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Jan 1, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr11:111957645
GRCh38:
Chr11:112086921
SDHDPheochromocytomaPathogenic
(May 9, 2002)
no assertion criteria provided
7.
GRCh37:
Chr11:111957649
GRCh38:
Chr11:112086925
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Likely benign
(Jan 10, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr11:111957664
GRCh38:
Chr11:112086940
SDHDPheochromocytoma, Tumor predisposition syndromePathogenic
(Feb 2, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr11:111957665
GRCh38:
Chr11:112086941
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Carcinoid tumor of intestine,
Paragangliomas 1, not specified, not provided,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome
GO-ESP:0.00793(A)
GMAF:0.00500(A)
Conflicting interpretations of pathogenicity, not provided
(Mar 27, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr11:111957673
GRCh38:
Chr11:112086949
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Likely benign
(Nov 26, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr11:111957682
GRCh38:
Chr11:112086958
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Mar 25, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:111957685
GRCh38:
Chr11:112086961
SDHDParagangliomas 1Pathogenic
(Dec 15, 2000)
no assertion criteria provided
13.
GRCh37:
Chr11:111957707
GRCh38:
Chr11:112086983
SDHDHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
14.
GRCh37:
Chr11:111958585
GRCh38:
Chr11:112087861
SDHDParaganglioma and gastric stromal sarcomaPathogenic
(Jan 1, 2008)
no assertion criteria provided
15.
GRCh37:
Chr11:111958592
GRCh38:
Chr11:112087868
SDHDPheochromocytoma, Paragangliomas 1Pathogenic
(Jan 23, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr11:111958601
GRCh38:
Chr11:112087877
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Feb 29, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr11:111958622-111958623
GRCh38:
Chr11:112087898-112087899
SDHDParagangliomas 1Pathogenic
(Apr 14, 2001)
no assertion criteria provided
18.
GRCh37:
Chr11:111958623
GRCh38:
Chr11:112087899
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
19.
GRCh37:
Chr11:111958629
GRCh38:
Chr11:112087905
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
not specified, Cowden syndrome 3
Uncertain significance
(Feb 25, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr11:111958634
GRCh38:
Chr11:112087910
SDHDParagangliomas 1Pathogenic
(Feb 4, 2000)
no assertion criteria provided
21.
GRCh37:
Chr11:111958640
GRCh38:
Chr11:112087916
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Pathogenic
(Feb 25, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr11:111958646
GRCh38:
Chr11:112087922
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Jan 29, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:111958657
GRCh38:
Chr11:112087933
SDHDParagangliomas 1, Tumor predisposition syndromePathogenic
(Jun 2, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr11:111958675
GRCh38:
Chr11:112087951
SDHDTumor predisposition syndromePathogenic
(Apr 21, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr11:111958677
GRCh38:
Chr11:112087953
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Carcinoid tumor of intestine,
Paragangliomas 1, Merkel cell carcinoma, not specified,
MERKEL CELL CARCINOMA, SOMATIC, not provided, Cowden syndrome 3,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00631(G)
GMAF:0.00660(G)
Conflicting interpretations of pathogenicity, not provided
(Mar 26, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr11:111958683
GRCh38:
Chr11:112087959
SDHDHereditary cancer-predisposing syndromePathogenic
(Dec 5, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr11:111958686
GRCh38:
Chr11:112087962
SDHDPheochromocytomaUncertain significance
(Jun 1, 2014)
no assertion criteria provided
28.
GRCh37:
Chr11:111959594
GRCh38:
Chr11:112088870
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Mar 8, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr11:111959601
GRCh38:
Chr11:112088877
SDHDTumor predisposition syndromeUncertain significance
(Feb 16, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr11:111959612-111959613
GRCh38:
Chr11:112088888-112088889
SDHDParagangliomas 1 with sensorineural hearing lossPathogenic
(Jul 1, 2001)
no assertion criteria provided
31.
GRCh37:
Chr11:111959625
GRCh38:
Chr11:112088901
SDHDnot specified, Hereditary cancer-predisposing syndromeGO-ESP:0.12011(T)
GMAF:0.11340(T)
Benign/Likely benign
(Nov 21, 2014)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:111959626
GRCh38:
Chr11:112088902
SDHDMitochondrial complex II deficiencyPathogenic
(Mar 1, 2014)
no assertion criteria provided
33.
GRCh37:
Chr11:111959630
GRCh38:
Chr11:112088906
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Feb 18, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Pathogenic
(Mar 17, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Hereditary Paraganglioma-Pheochromocytoma Syndromes, Paragangliomas 1 with sensorineural hearing loss, not provided,
Hereditary cancer-predisposing syndrome
Pathogenic
(Dec 19, 2015)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:111959669
GRCh38:
Chr11:112088945
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Dec 13, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr11:111959676
GRCh38:
Chr11:112088952
SDHDnot specifiednot provided
(Sep 19, 2013)
no assertion provided
38.
GRCh37:
Chr11:111959695
GRCh38:
Chr11:112088971
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Pathogenic
(Nov 19, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr11:111959696
GRCh38:
Chr11:112088972
SDHDMitochondrial complex II deficiency, Fatal infantile mitochondrial cardiomyopathyPathogenic
(May 26, 2015)
no assertion criteria provided
40.
GRCh37:
Chr11:111959698-111959700
GRCh38:
Chr11:112088974-112088976
SDHDParagangliomas 1Pathogenic
(Jul 1, 2001)
no assertion criteria provided
41.
GRCh37:
Chr11:111959699
GRCh38:
Chr11:112088975
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
not specified, Cowden syndrome 3, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 22, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:111959703
GRCh38:
Chr11:112088979
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Likely benign
(Jan 1, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr11:111959703
GRCh38:
Chr11:112088979
SDHDHereditary cancer-predisposing syndromeLikely benign
(Jan 21, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr11:111959705
GRCh38:
Chr11:112088981
SDHDHereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Aug 30, 2012)
no assertion criteria provided
45.
GRCh37:
Chr11:111959719-111959722
GRCh38:
Chr11:112088995-112088998
SDHDHereditary cancer-predisposing syndromePathogenic
(Oct 15, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr11:111959725
GRCh38:
Chr11:112089001
SDHDHereditary cancer-predisposing syndromeLikely pathogenic
(Jul 29, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr11:111959726
GRCh38:
Chr11:112089002
SDHDParagangliomas 1Pathogenic
(Feb 4, 2000)
no assertion criteria provided
48.
GRCh37:
Chr11:111959733
GRCh38:
Chr11:112089009
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
not specified, Cowden syndrome 3
Benign/Likely benign
(Mar 18, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:111959859
GRCh38:
Chr11:112089135
SDHDHereditary cancer-predisposing syndromeGMAF:0.00500(C)Likely benign
(Dec 1, 2015)
no assertion criteria provided
50.
GRCh37:
Chr11:111965532
GRCh38:
Chr11:112094808
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Likely benign
(Mar 21, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr11:111965534
GRCh38:
Chr11:112094810
SDHDTumor predisposition syndromeUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
52.
GRCh37:
Chr11:111965549
GRCh38:
Chr11:112094825
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Mar 28, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr11:111965551-111965554
GRCh38:
Chr11:112094827-112094830
SDHDParagangliomas 1Pathogenic
(Aug 1, 2002)
no assertion criteria provided
54.
GRCh37:
Chr11:111965551-111965552
GRCh38:
Chr11:112094827-112094828
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
55.
GRCh37:
Chr11:111965552
GRCh38:
Chr11:112094828
SDHDHereditary cancer-predisposing syndromeUncertain significance
(Aug 9, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr11:111965554
GRCh38:
Chr11:112094830
SDHDTumor predisposition syndromeLikely pathogenic
(May 12, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr11:111965555
GRCh38:
Chr11:112094831
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Tumor predisposition syndrome
Pathogenic
(Apr 28, 2015)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:111965567
GRCh38:
Chr11:112094843
SDHDTumor predisposition syndromeUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr11:111965570
GRCh38:
Chr11:112094846
SDHDTumor predisposition syndromeUncertain significance
(Sep 23, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr11:111965575
GRCh38:
Chr11:112094851
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1
Likely pathogenic
(Mar 5, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr11:111965589
GRCh38:
Chr11:112094865
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr11:111965600
GRCh38:
Chr11:112094876
SDHDPheochromocytomaLikely pathogenic
(Jan 1, 2016)
no assertion criteria provided
63.
GRCh37:
Chr11:111965614
GRCh38:
Chr11:112094890
SDHDnot providedUncertain significance
(Jul 13, 2012)
no assertion criteria provided
64.
GRCh37:
Chr11:111965626
GRCh38:
Chr11:112094902
SDHDHereditary cancer-predisposing syndromeUncertain significance
(Dec 31, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr11:111965630
GRCh38:
Chr11:112094906
SDHDParagangliomas 1, Hereditary Paraganglioma-Pheochromocytoma SyndromesPathogenic
(Aug 30, 2012)
no assertion criteria provided
66.
GRCh37:
Chr11:111965647
GRCh38:
Chr11:112094923
SDHDCowden syndrome 3Pathogenic
(Aug 1, 2008)
no assertion criteria provided
67.
GRCh37:
Chr11:111965657
GRCh38:
Chr11:112094933
SDHDParagangliomas 1Pathogenic
(May 15, 2001)
no assertion criteria provided
68.
GRCh37:
Chr11:111965667
GRCh38:
Chr11:112094943
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Dec 31, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr11:111965677
GRCh38:
Chr11:112094953
SDHDParagangliomas 1Pathogenic
(Jan 1, 2004)
no assertion criteria provided
70.
GRCh37:
Chr11:111965687-111965697
GRCh38:
Chr11:112094963-112094973
SDHDParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas 1,
Cowden syndrome 3
Uncertain significance
(Mar 11, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr11:111965693
GRCh38:
Chr11:112094969
SDHDMitochondrial complex II deficiencyPathogenic
(Mar 1, 2014)
no assertion criteria provided
72.
GRCh37:
Chr11:111965694
GRCh38:
Chr11:112094970
SDHDnot specifiednot provided
(Sep 19, 2013)
no assertion provided
73.
GRCh37:
Chr11:111965954
GRCh38:
Chr11:112095230
SDHDnot specifiedGMAF:0.04270(A)Benign
(Nov 5, 2013)
criteria provided, single submitter
74.
GRCh37:
Chr11:111966122
GRCh38:
Chr11:112095398
SDHDnot specifiedGMAF:0.00320(G)Likely benign
(Jun 12, 2013)
criteria provided, single submitter
75.
GRCh37:
Chr11:111966307
GRCh38:
Chr11:112095583
SDHDnot specifiedGMAF:0.06390(T)Benign
(Dec 21, 2012)
criteria provided, single submitter
76.
GRCh37:
Chr11:111966497
GRCh38:
Chr11:112095773
SDHDnot specifiedGMAF:0.10640(G)Benign
(Dec 21, 2012)
criteria provided, single submitter
77.
GRCh37:
Chr11:111966516
GRCh38:
Chr11:112095792
SDHDnot specifiedUncertain significance
(Oct 14, 2013)
criteria provided, single submitter
78.
GRCh37:
Chr11:111965980-111966081
GRCh38:
Chr11:112095256-112095357
SDHDHereditary Paraganglioma-Pheochromocytoma SyndromesLikely pathogenic
(Jan 15, 2013)
criteria provided, single submitter
79.
GRCh37:
Chr11:111530104-112126455
GRCh38:
Chr11:111659380-112255732
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
80.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
ACAT1, ACRV1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, ATM, FXYD2, CXCR5, CASP1, CASP4, CASP5, CBL, CD3D, CD3E, CD3G, CHEK1, CRYAB, DDX6, DDX10, DLAT, DPAGT1, DRD2, ETS1, FDX1, FLI1, SLC37A4, GRIA4, GRIK4, GUCY1A2, H2AFX, HMBS, HSPA8, HSPB2, HTR3A, IL10RA, IL18, STT3A, KCNJ1, KCNJ5, VWA5A, MCAM, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, NCAM1, NFRKB, NNMT, NPAT, NRGN, OPCML, PAFAH1B2, PGR, POU2AF1, PPP2R1B, PTS, NECTIN1, RDX, RPS25, SC5D, SCN2B, SCN4B, SDHD, ST3GAL4, SLN, SORL1, SRPRA, ST14, TAGLN, TECTA, THY1, TRPC6, UPK2, ZBTB16, ZNF202, CUL5, BARX2, ZPR1, USP2, PCSK7, HTR3B, ZW10, MMP20, UBE4A, EI24, FEZ1, ARHGAP32, C2CD2L, RBM7, MPZL2, YAP1, HYOU1, ATP5L, ADAMTS8, TREH, CEP164, IGSF9B, EXPH5, PHLDB1, SIK2, NCAPD3, ARHGEF12, SIK3, VSIG2, BACE1, TRIM29, CADM1, POU2F3, HINFP, REXO2, OR8G2, OR8B8, OR8G1, TIMM8B, OR8B2, ACAD8, B3GAT1, DCPS, ZBTB44, THYN1, DDX25, NTM, CDON, SIDT2, TRAPPC4, SPA17, FXYD6, CNTN5, SIAE, C11orf71, ROBO4, SLC35F2, RAB39A, BTG4, NXPE4, TTC12, C11orf57, ELMOD1, FOXRED1, SCN3B, VPS11, TEX12, CRTAM, TMPRSS4, IFT46, PRDM10, DSCAML1, GRAMD1B, CEP126, ARHGAP20, USP28, CARD18, AASDHPPT, PKNOX2, TP53AIP1, MMP27, ABCG4, ROBO3, C11orf1, RNF26, FAM118B, DYNC2H1, NLRX1, MSANTD2, ALG9, CLMP, PDZD3, C11orf63, CCDC15, PDGFD, TMPRSS5, PUS3, MFRP, JAM3, BCO2, TMEM133, TMPRSS13, DCUN1D5, MSANTD4, KIRREL3, BUD13, TMEM25, RPUSD4, TBRG1, UBASH3B, C11orf70, SNORD14C, SNORD14D, SNORD14E, DIXDC1, ZC3H12C, GLB1L2, ESAM, ALKBH8, FDXACB1, C11orf52, VPS26B, GLB1L3, TIRAP, CARD16, C1QTNF5, TMEM123, PANX3, APOA5, TMEM45B, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, PATE1, C11orf65, ADAMTS15, MPZL3, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, SPATA19, HEPACAM, OAF, ANGPTL5, ANKK1, RNF214, LOC283140, LINC00900, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, KIRREL3-AS3, C11orf44, MIR4697HG, LOC283177, CCDC84, TMEM225, OR8D4, C11orf53, PLET1, LOC387810, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, C11orf87, COLCA1, C11orf88, MIR100HG, PATE2, PATE4, ST3GAL4-AS1, SNX19, LOC403312, MIRLET7A2, MIR100, MIR125B1, MIR34B, MIR34C, DDI1, BLID, CARD17, LINC00167, HEPN1, LOC643923, CLDN25, LOC646522, LOC649133, LOC100128088, LOC100128239, LOC100128386, LOC100131626, LOC100132078, LOC100132686, PATE3, ZNF123P, TRK-TTT2-1, NCAM1-AS1, BACE1-AS, MIR4301, MIR3167, USP2-AS1, MIR3920, MIR3656, CASP12, LOC100507283, SENCR, LOC100507431, LOC100507548, TMPRSS4-AS1, HSPB2-C11orf52, FXYD6-FXYD2, MIR4697, MIR4493, MIR4491, MIR4492, MIR4693, LOC100652768, KIRREL3-AS2, NTM-IT, LOC101054525, LOC101928424, LOC101928535, LOC101928823, LOC101928847, LOC101928940, LOC101928985, LOC101929011, LOC101929089, LOC101929208, LOC101929227, LOC101929340, LOC101929427, LOC101929473, LOC101929497, LOC101929517, LOC101929538, LINC01395, NTM-AS1, LOC101929653, MIR6756, MIR7641-1, MIR6090, MIR6716, MIR8052, LOC102723838, LOC102723895, LOC102724301, LOC103611081, PKNOX2-AS1, APOA1-AS, LOC105369473, LOC105369486, LOC105369507, LOC105369509, LOC105369532, STT3A-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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