S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 51

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:130577977
GRCh38:
Chr9:127815698
ENGnot specifiedUncertain significance
(May 3, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr9:130578230
GRCh38:
Chr9:127815951
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Haemorrhagic telangiectasia 1,
Juvenile Polyposis
Likely benign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:130578280
GRCh38:
Chr9:127816001
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:130578312
GRCh38:
Chr9:127816033
ENGOsler hemorrhagic telangiectasia syndrome, not specifiedUncertain significance
(Nov 15, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:130579454
GRCh38:
Chr9:127817175
ENG, LOC102723566not providedPathogenic
(Dec 28, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:130579499
GRCh38:
Chr9:127817220
ENG, LOC102723566not specifiedLikely benign
(Aug 15, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:130580428
GRCh38:
Chr9:127818149
ENG, LOC102723566not providedLikely pathogenic
(Dec 28, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr9:130580499
GRCh38:
Chr9:127818220
ENG, LOC102723566Osler hemorrhagic telangiectasia syndrome, not providedPathogenic/Likely pathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:130580530-130580531
GRCh38:
Chr9:127818251-127818252
ENG, LOC102723566not providedPathogenic
(Sep 22, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:130580534-130580535
GRCh38:
Chr9:127818255-127818256
ENG, LOC102723566not providedPathogenic
(Jul 7, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr9:130580620
GRCh38:
Chr9:127818341
ENG, LOC102723566not providedLikely pathogenic
(Feb 9, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:130580630
GRCh38:
Chr9:127818351
ENG, LOC102723566not specifiedLikely benign
(Apr 25, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:130580993
GRCh38:
Chr9:127818714
ENG, LOC102723566not providedPathogenic
(Jan 7, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr9:130580994
GRCh38:
Chr9:127818715
ENG, LOC102723566not providedPathogenic
(Oct 23, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr9:130581049
GRCh38:
Chr9:127818770
ENG, LOC102723566Osler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:130581059-130581060
GRCh38:
Chr9:127818780-127818781
ENG, LOC102723566not providedPathogenic
(Jul 14, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr9:130581111
GRCh38:
Chr9:127818832
ENG, LOC102723566not providedPathogenic
(Apr 7, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr9:130581941
GRCh38:
Chr9:127819662
ENG, LOC102723566not provided, Haemorrhagic telangiectasia 1Pathogenic
(Apr 7, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr9:130582178
GRCh38:
Chr9:127819899
ENG, LOC102723566not providedPathogenic
(May 12, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr9:130586593-130586596
GRCh38:
Chr9:127824314-127824317
ENGnot providedPathogenic
(Jun 12, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr9:130586621
GRCh38:
Chr9:127824342
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr9:130586634-130586637
GRCh38:
Chr9:127824355-127824358
ENGOsler hemorrhagic telangiectasia syndrome, not providedPathogenic
(Jul 1, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr9:130586657
GRCh38:
Chr9:127824378
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr9:130586688
GRCh38:
Chr9:127824409
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr9:130586703
GRCh38:
Chr9:127824424
ENGnot specifiedLikely benign
(Jul 5, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr9:130587052-130587053
GRCh38:
Chr9:127824773-127824774
ENGnot specifiedBenign
(May 4, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr9:130587175
GRCh38:
Chr9:127824896
ENGnot providedLikely pathogenic
(Sep 12, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:130587510
GRCh38:
Chr9:127825231
ENGnot providedPathogenic
(Sep 29, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:130587601-130587605
GRCh38:
Chr9:127825322-127825326
ENGnot providedPathogenic
(Mar 22, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr9:130587611
GRCh38:
Chr9:127825332
ENGnot providedPathogenic
(Mar 28, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr9:130587611
GRCh38:
Chr9:127825332
ENGOsler hemorrhagic telangiectasia syndrome, not providedPathogenic
(Feb 2, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr9:130587614
GRCh38:
Chr9:127825335
ENGnot providedPathogenic
(Feb 18, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:130587618-130587620
GRCh38:
Chr9:127825339-127825341
ENGnot specifiedUncertain significance
(Mar 8, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr9:130587972
GRCh38:
Chr9:127825693
ENGnot providedPathogenic
(Apr 28, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr9:130588091
GRCh38:
Chr9:127825812
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr9:130588101
GRCh38:
Chr9:127825822
ENGnot providedPathogenic
(Nov 2, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:130588154
GRCh38:
Chr9:127825875
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Aug 8, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr9:130588865
GRCh38:
Chr9:127826586
ENGOsler hemorrhagic telangiectasia syndrome, not providedPathogenic
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr9:130588866
GRCh38:
Chr9:127826587
ENGnot providedPathogenic
(May 15, 2014)
criteria provided, single submitter
40.
GRCh37:
Chr9:130588868
GRCh38:
Chr9:127826589
ENGnot specifiedLikely benign
(Jun 30, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr9:130591961
GRCh38:
Chr9:127829682
ENGOsler hemorrhagic telangiectasia syndrome, not providedConflicting interpretations of pathogenicity
(Mar 10, 2017)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr9:130591965
GRCh38:
Chr9:127829686
ENGOsler hemorrhagic telangiectasia syndrome, not providedPathogenic
(Dec 21, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr9:130592035
GRCh38:
Chr9:127829756
ENGOsler hemorrhagic telangiectasia syndrome, not specifiedLikely benign
(Jun 6, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr9:130592049
GRCh38:
Chr9:127829770
ENGnot providedPathogenic
(Aug 15, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:130592079
GRCh38:
Chr9:127829800
ENGnot providedPathogenic
(Aug 26, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr9:130605385
GRCh38:
Chr9:127843106
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr9:130605472
GRCh38:
Chr9:127843193
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr9:130605494
GRCh38:
Chr9:127843215
ENGnot specifiedUncertain significance
(Feb 6, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr9:130616621
GRCh38:
Chr9:127854342
ENGOsler hemorrhagic telangiectasia syndrome, not specified, Juvenile Polyposis
Benign/Likely benign
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr9:163131-141122114
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, TMEM250, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, C9orf142, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, C9orf106, IDNK, LCN10, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:128755862-132444654
GRCh38:
Chr9:125993583-129682375
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center