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Items: 1 to 100 of 259

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:101911500
GRCh38:
Chr9:99149218
TGFBR1not providedLikely pathogenic
(Jul 10, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr9:101904860
GRCh38:
Chr9:99142578
TGFBR1not specifiedUncertain significance
(Mar 24, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr9:101900246
GRCh38:
Chr9:99137964
TGFBR1not providedLikely pathogenic
(Sep 5, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr9:101909958
GRCh38:
Chr9:99147676
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 10, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:101904822
GRCh38:
Chr9:99142540
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 8, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:101907144
GRCh38:
Chr9:99144862
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 3, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:101900266
GRCh38:
Chr9:99137984
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr9:101904832
GRCh38:
Chr9:99142550
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 21, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr9:101867557-101867565
GRCh38:
Chr9:99105275-99105283
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedConflicting interpretations of pathogenicity
(Sep 25, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr9:101904956
GRCh38:
Chr9:99142674
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(May 22, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:101894947
GRCh38:
Chr9:99132665
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 2, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:101900362
GRCh38:
Chr9:99138080
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 10, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:101900245
GRCh38:
Chr9:99137963
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 10, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr9:101894916
GRCh38:
Chr9:99132634
TGFBR1Thoracic aortic aneurysm and aortic dissectionPathogenic
(Apr 21, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:101907098-101907099
GRCh38:
Chr9:99144816-99144817
TGFBR1not specifiedUncertain significance
(Nov 1, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:101867511
GRCh38:
Chr9:99105229
TGFBR1not specifiedUncertain significance
(Jun 16, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:203861-141020389
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, 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, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenicno assertion criteria provided
18.
GRCh37:
Chr9:203864-141020389
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, 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, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenicno assertion criteria provided
19.
GRCh37:
Chr9:62525-141006407
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, FOXD4, 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, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
20.
GRCh37:
Chr9:101900299
GRCh38:
Chr9:99138017
TGFBR1not specifiedUncertain significance
(Jan 5, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr9:101867522
GRCh38:
Chr9:99105240
TGFBR1not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr9:101894866
GRCh38:
Chr9:99132584
TGFBR1not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr9:101900289
GRCh38:
Chr9:99138007
TGFBR1not specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:101911535
GRCh38:
Chr9:99149253
TGFBR1not providedLikely pathogenic
(Nov 11, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:101891288
GRCh38:
Chr9:99129006
TGFBR1not specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr9:101900184
GRCh38:
Chr9:99137902
TGFBR1not specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:101900148
GRCh38:
Chr9:99137866
TGFBR1not specifiedLikely benign
(Sep 15, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:101895005
GRCh38:
Chr9:99132723
TGFBR1not specifiedLikely benign
(Jun 8, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:101867519
GRCh38:
Chr9:99105237
TGFBR1not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:101891174
GRCh38:
Chr9:99128892
TGFBR1not specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr9:101891243
GRCh38:
Chr9:99128961
TGFBR1not specifiedLikely benign
(Jan 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr9:101867439
GRCh38:
Chr9:99105157
TGFBR1not specifiedLikely benign
(Apr 5, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:101867484
GRCh38:
Chr9:99105202
TGFBR1not specifiedLikely benign
(Jan 17, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr9:101895039
GRCh38:
Chr9:99132757
TGFBR1not specifiedBenign
(Mar 30, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr9:101894949
GRCh38:
Chr9:99132667
TGFBR1not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:101894792
GRCh38:
Chr9:99132510
TGFBR1not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:101916396
GRCh38:
Chr9:99154114
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:101916380
GRCh38:
Chr9:99154098
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:101916391
GRCh38:
Chr9:99154109
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:101916315
GRCh38:
Chr9:99154033
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:101916210
GRCh38:
Chr9:99153928
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr9:101916165
GRCh38:
Chr9:99153883
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:101916152
GRCh38:
Chr9:99153870
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:101916086
GRCh38:
Chr9:99153804
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:101916080
GRCh38:
Chr9:99153798
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:101916076
GRCh38:
Chr9:99153794
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr9:101916054
GRCh38:
Chr9:99153772
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr9:101915943
GRCh38:
Chr9:99153661
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:101915887
GRCh38:
Chr9:99153605
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:101915789
GRCh38:
Chr9:99153507
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:101915734
GRCh38:
Chr9:99153452
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:101915675
GRCh38:
Chr9:99153393
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr9:101915642
GRCh38:
Chr9:99153360
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr9:101915468
GRCh38:
Chr9:99153186
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr9:101915417
GRCh38:
Chr9:99153135
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:101915385
GRCh38:
Chr9:99153103
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr9:101915377
GRCh38:
Chr9:99153095
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:101915303
GRCh38:
Chr9:99153021
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr9:101915291
GRCh38:
Chr9:99153009
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr9:101915154
GRCh38:
Chr9:99152872
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr9:101915069
GRCh38:
Chr9:99152787
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr9:101915019
GRCh38:
Chr9:99152737
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr9:101915017
GRCh38:
Chr9:99152735
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr9:101914969
GRCh38:
Chr9:99152687
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr9:101914904
GRCh38:
Chr9:99152622
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr9:101914901
GRCh38:
Chr9:99152619
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr9:101914873
GRCh38:
Chr9:99152591
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr9:101914849
GRCh38:
Chr9:99152567
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr9:101914848
GRCh38:
Chr9:99152566
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr9:101914812
GRCh38:
Chr9:99152530
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr9:101914779
GRCh38:
Chr9:99152497
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr9:101914643
GRCh38:
Chr9:99152361
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr9:101914567
GRCh38:
Chr9:99152285
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr9:101914467
GRCh38:
Chr9:99152185
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:101914420
GRCh38:
Chr9:99152138
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr9:101914387
GRCh38:
Chr9:99152105
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:101914386
GRCh38:
Chr9:99152104
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr9:101914378
GRCh38:
Chr9:99152096
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr9:101914355
GRCh38:
Chr9:99152073
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr9:101914300
GRCh38:
Chr9:99152018
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr9:101914290
GRCh38:
Chr9:99152008
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr9:101914272
GRCh38:
Chr9:99151990
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr9:101914232
GRCh38:
Chr9:99151950
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr9:101914224-101914226
GRCh38:
Chr9:99151942-99151944
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr9:101914134
GRCh38:
Chr9:99151852
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr9:101913997
GRCh38:
Chr9:99151715
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr9:101913866
GRCh38:
Chr9:99151584
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr9:101913766
GRCh38:
Chr9:99151484
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr9:101913693
GRCh38:
Chr9:99151411
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr9:101913699-101913701
GRCh38:
Chr9:99151417-99151419
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr9:101913691-101913692
GRCh38:
Chr9:99151409-99151410
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr9:101913690-101913691
GRCh38:
Chr9:99151408-99151409
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Benign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr9:101913690
GRCh38:
Chr9:99151408
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr9:101913688-101913689
GRCh38:
Chr9:99151406-99151407
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr9:101913687
GRCh38:
Chr9:99151405
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr9:101913682
GRCh38:
Chr9:99151400
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr9:101913679
GRCh38:
Chr9:99151397
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr9:101913692
GRCh38:
Chr9:99151410
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr9:101913673
GRCh38:
Chr9:99151391
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr9:101913668
GRCh38:
Chr9:99151386
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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