| - GRCh37:
- Chr15:60120659-102461201
- GRCh38:
- Chr15:59828460-101920998
| SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SIN3A, SKOR1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, SMAD6, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNRPA1-DT, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR61, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH, AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARNT2-DT, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02206, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929076, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102723493, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC121530585, LOC121530586, LOC121530587, LOC121530588, LOC121530589, LOC121530590, LOC121530591, LOC121530592, LOC121530593, LOC121530594, LOC121530595, LOC121530596, LOC121530597, LOC121530598, LOC121530599, LOC121530600, LOC121530601, LOC121530602, LOC121530603, LOC121530604, LOC121530605, LOC121847953, LOC121847954, LOC121847955, LOC121847956, LOC121847957, LOC121847958, LOC121847959, LOC121847960, LOC121847961, LOC121847962, LOC121847963, LOC121847964, LOC121847965, LOC121847966, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5 | | See cases | Pathogenic (Oct 24, 2012) | no assertion criteria provided | VCV000154848 |
| - GRCh37:
- Chr15:66995577-67482894
- GRCh38:
- Chr15:66703239-67190556
| LINC02206, LOC102723493, LOC110120917, LOC111365216, LOC111413015, LOC111413043, LOC121530586, LOC121847954, SMAD3, SMAD6 | | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Aug 1, 2018) | criteria provided, single submitter | VCV000657387 |
| - GRCh37:
- Chr15:66995577-67358718
- GRCh38:
- Chr15:66703239-67066380
| LOC111413043, LOC121847954, LINC02206, LOC102723493, LOC110120917, LOC111413015, SMAD3, SMAD6 | | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Jul 15, 2019) | criteria provided, single submitter | VCV000584398 |
| - GRCh37:
- Chr15:67358213
- GRCh38:
- Chr15:67065875
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000316851 |
| - GRCh37:
- Chr15:67358228
- GRCh38:
- Chr15:67065890
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000316852 |
| - GRCh37:
- Chr15:67358249
- GRCh38:
- Chr15:67065911
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000316853 |
| - GRCh37:
- Chr15:67358253
- GRCh38:
- Chr15:67065915
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000316854 |
| - GRCh37:
- Chr15:67358276
- GRCh38:
- Chr15:67065938
| SMAD3 | | Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000316855 |
| - GRCh37:
- Chr15:67358325
- GRCh38:
- Chr15:67065987
| SMAD3 | | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000316856 |
| - GRCh37:
- Chr15:67358329
- GRCh38:
- Chr15:67065991
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000316857 |
| - GRCh37:
- Chr15:67358354
- GRCh38:
- Chr15:67066016
| SMAD3 | | Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000884685 |
| - GRCh37:
- Chr15:67358378
- GRCh38:
- Chr15:67066040
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome | Likely benign (Jun 14, 2016) | criteria provided, single submitter | VCV000316858 |
| - GRCh37:
- Chr15:67358393
- GRCh38:
- Chr15:67066055
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000316859 |
| - GRCh37:
- Chr15:67358455
- GRCh38:
- Chr15:67066117
| SMAD3 | | Aneurysm-osteoarthritis syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000884686 |
| - GRCh37:
- Chr15:67358465
- GRCh38:
- Chr15:67066127
| SMAD3 | | not specified, Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome
| Benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts | VCV000139214 |
| - GRCh37:
- Chr15:67358470
- GRCh38:
- Chr15:67066132
| SMAD3 | | Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome, not specified
| Benign (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts | VCV000139215 |
| - GRCh37:
- Chr15:67358475
- GRCh38:
- Chr15:67066137
| SMAD3 | | not specified | Likely benign (Oct 26, 2017) | criteria provided, single submitter | VCV000506315 |
| - GRCh37:
- Chr15:67358476-67358478
- GRCh38:
- Chr15:67066138-67066140
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 5, 2020) | criteria provided, single submitter | VCV001172449 |
| - GRCh37:
- Chr15:67358478
- GRCh38:
- Chr15:67066140
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, not specified
| Benign (Aug 16, 2019) | criteria provided, multiple submitters, no conflicts | VCV000139216 |
| - GRCh37:
- Chr15:67358483
- GRCh38:
- Chr15:67066145
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 5, 2019) | criteria provided, single submitter | VCV000922300 |
| - GRCh37:
- Chr15:67358491
- GRCh38:
- Chr15:67066153
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Dec 17, 2019) | criteria provided, single submitter | VCV000924233 |
| - GRCh37:
- Chr15:67358492
- GRCh38:
- Chr15:67066154
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided | Uncertain significance (Feb 9, 2021) | criteria provided, multiple submitters, no conflicts | VCV000283793 |
| - GRCh37:
- Chr15:67358493
- GRCh38:
- Chr15:67066155
| SMAD3 | M1V | Aortic aneurysm | Pathogenic | criteria provided, single submitter | VCV001172631 |
| - GRCh37:
- Chr15:67358493
- GRCh38:
- Chr15:67066155
| SMAD3 | M1L | Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic/Likely pathogenic (Feb 24, 2021) | criteria provided, multiple submitters, no conflicts | VCV000930360 |
| - GRCh37:
- Chr15:67358493
- GRCh38:
- Chr15:67066155
| SMAD3 | M1L | Cardiovascular phenotype | Likely pathogenic (Apr 13, 2018) | criteria provided, single submitter | VCV000520186 |
| - GRCh37:
- Chr15:67358495
- GRCh38:
- Chr15:67066157
| SMAD3 | M1I | Aneurysm-osteoarthritis syndrome | Likely pathogenic (Sep 11, 2020) | criteria provided, single submitter | VCV001174530 |
| - GRCh37:
- Chr15:67358497
- GRCh38:
- Chr15:67066159
| SMAD3 | S2* | Familial thoracic aortic aneurysm and aortic dissection, not provided | Pathogenic/Likely pathogenic (Apr 12, 2021) | criteria provided, multiple submitters, no conflicts | VCV000451689 |
| - GRCh37:
- Chr15:67358498
- GRCh38:
- Chr15:67066160
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jan 15, 2020) | criteria provided, multiple submitters, no conflicts | VCV000770040 |
| - GRCh37:
- Chr15:67358501
- GRCh38:
- Chr15:67066163
| SMAD3 | | Cardiovascular phenotype | Likely benign (Jan 27, 2014) | criteria provided, single submitter | VCV000263814 |
| - GRCh37:
- Chr15:67358504
- GRCh38:
- Chr15:67066166
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided, Aneurysm-osteoarthritis syndrome
| Conflicting interpretations of pathogenicity (Aug 11, 2021) | criteria provided, conflicting interpretations | VCV000701973 |
| - GRCh37:
- Chr15:67358509
- GRCh38:
- Chr15:67066171
| SMAD3 | P6L | not provided | Uncertain significance (Feb 9, 2014) | criteria provided, single submitter | VCV000213778 |
| - GRCh37:
- Chr15:67358513
- GRCh38:
- Chr15:67066175
| SMAD3 | F7fs | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Feb 22, 2019) | criteria provided, single submitter | VCV000920433 |
| - GRCh37:
- Chr15:67358515
- GRCh38:
- Chr15:67066177
| SMAD3 | T8S | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter | VCV001427948 |
| - GRCh37:
- Chr15:67358519
- GRCh38:
- Chr15:67066181
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Benign/Likely benign (Oct 24, 2021) | criteria provided, multiple submitters, no conflicts | VCV000543914 |
| - GRCh37:
- Chr15:67358526
- GRCh38:
- Chr15:67066188
| SMAD3 | V12L | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter | VCV000477574 |
| - GRCh37:
- Chr15:67358528
- GRCh38:
- Chr15:67066190
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided | Likely benign (Oct 25, 2021) | criteria provided, multiple submitters, no conflicts | VCV000629399 |
| - GRCh37:
- Chr15:67358538
- GRCh38:
- Chr15:67066200
| SMAD3 | L16V | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jan 5, 2021) | criteria provided, single submitter | VCV001172164 |
| - GRCh37:
- Chr15:67358540
- GRCh38:
- Chr15:67066202
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
| Likely benign (Nov 9, 2018) | criteria provided, multiple submitters, no conflicts | VCV000264624 |
| - GRCh37:
- Chr15:67358543
- GRCh38:
- Chr15:67066205
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Feb 11, 2020) | criteria provided, single submitter | VCV000742631 |
| - GRCh37:
- Chr15:67358545
- GRCh38:
- Chr15:67066207
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic/Likely pathogenic (Mar 6, 2019) | criteria provided, multiple submitters, no conflicts | VCV000420915 |
| - GRCh37:
- Chr15:67358548
- GRCh38:
- Chr15:67066210
| SMAD3 | K19R | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jun 29, 2020) | criteria provided, single submitter | VCV001171048 |
| - GRCh37:
- Chr15:67358552
- GRCh38:
- Chr15:67066214
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Feb 11, 2020) | criteria provided, single submitter | VCV000742632 |
| - GRCh37:
- Chr15:67358555
- GRCh38:
- Chr15:67066217
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Apr 15, 2021) | criteria provided, multiple submitters, no conflicts | VCV001140671 |
| - GRCh37:
- Chr15:67358555
- GRCh38:
- Chr15:67066217
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided | Likely benign (Dec 1, 2021) | criteria provided, single submitter | VCV000742633 |
| - GRCh37:
- Chr15:67358556
- GRCh38:
- Chr15:67066218
| SMAD3 | E22K | not provided | Uncertain significance (May 4, 2022) | criteria provided, single submitter | VCV001683948 |
| - GRCh37:
- Chr15:67358556-67358557
- GRCh38:
- Chr15:67066218-67066219
| SMAD3 | N24fs | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Jan 2, 2021) | criteria provided, single submitter | VCV001454233 |
| - GRCh37:
- Chr15:67358558
- GRCh38:
- Chr15:67066220
| SMAD3 | | Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, not specified | Benign/Likely benign (Nov 26, 2021) | criteria provided, multiple submitters, no conflicts | VCV000213757 |
| - GRCh37:
- Chr15:67358561
- GRCh38:
- Chr15:67066223
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jan 30, 2019) | criteria provided, single submitter | VCV000919505 |
| - GRCh37:
- Chr15:67358564
- GRCh38:
- Chr15:67066226
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided | Likely benign (Jun 19, 2020) | criteria provided, multiple submitters, no conflicts | VCV000765182 |
| - GRCh37:
- Chr15:67358564
- GRCh38:
- Chr15:67066226
| SMAD3 | N24K | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter | VCV000575061 |
| - GRCh37:
- Chr15:67358566
- GRCh38:
- Chr15:67066228
| SMAD3 | G25V | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts | VCV000477578 |
| - GRCh37:
- Chr15:67358573
- GRCh38:
- Chr15:67066235
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jul 26, 2019) | criteria provided, single submitter | VCV000928248 |
| - GRCh37:
- Chr15:67358574
- GRCh38:
- Chr15:67066236
| SMAD3 | E28* | not provided, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Aug 3, 2021) | criteria provided, multiple submitters, no conflicts | VCV000213779 |
| - GRCh37:
- Chr15:67358586
- GRCh38:
- Chr15:67066248
| SMAD3 | E32* | Isolated thoracic aortic aneurysm | Likely pathogenic (Sep 1, 2018) | criteria provided, single submitter | VCV000982355 |
| - GRCh37:
- Chr15:67358592
- GRCh38:
- Chr15:67066254
| SMAD3 | A34T | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Uncertain significance (Nov 14, 2021) | criteria provided, multiple submitters, no conflicts | VCV001333943 |
| - GRCh37:
- Chr15:67358594
- GRCh38:
- Chr15:67066256
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Feb 14, 2021) | criteria provided, multiple submitters, no conflicts | VCV000629397 |
| - GRCh37:
- Chr15:67358594-67358605
- GRCh38:
- Chr15:67066256-67066267
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, not provided | Uncertain significance (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts | VCV000213788 |
| - GRCh37:
- Chr15:67358602
- GRCh38:
- Chr15:67066264
| SMAD3 | S37I | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter | VCV000543897 |
| - GRCh37:
- Chr15:67358602-67358607
- GRCh38:
- Chr15:67066264-67066269
| SMAD3 | | not provided | Conflicting interpretations of pathogenicity (Jun 1, 2019) | criteria provided, conflicting interpretations | VCV000213806 |
| - GRCh37:
- Chr15:67358607
- GRCh38:
- Chr15:67066269
| SMAD3 | V39L | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter | VCV001475899 |
| - GRCh37:
- Chr15:67358609
- GRCh38:
- Chr15:67066271
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Nov 19, 2018) | criteria provided, single submitter | VCV000795177 |
| - GRCh37:
- Chr15:67358609
- GRCh38:
- Chr15:67066271
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Aug 1, 2020) | criteria provided, single submitter | VCV000705647 |
| - GRCh37:
- Chr15:67358611
- GRCh38:
- Chr15:67066273
| SMAD3 | K40R | not provided | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter | VCV001677452 |
| - GRCh37:
- Chr15:67358618
- GRCh38:
- Chr15:67066280
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Aug 1, 2020) | criteria provided, single submitter | VCV000705648 |
| - GRCh37:
- Chr15:67358627
- GRCh38:
- Chr15:67066289
| SMAD3 | Q47fs | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Nov 27, 2019) | criteria provided, single submitter | VCV000477570 |
| - GRCh37:
- Chr15:67358630
- GRCh38:
- Chr15:67066292
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Mar 8, 2021) | criteria provided, single submitter | VCV001539231 |
| - GRCh37:
- Chr15:67358637
- GRCh38:
- Chr15:67066299
| SMAD3 | D49Y | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jun 12, 2019) | criteria provided, single submitter | VCV000926137 |
| - GRCh37:
- Chr15:67358639
- GRCh38:
- Chr15:67066301
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jan 5, 2021) | criteria provided, single submitter | VCV001171657 |
| - GRCh37:
- Chr15:67358640
- GRCh38:
- Chr15:67066302
| SMAD3 | E50K | not provided | Uncertain significance (May 7, 2015) | criteria provided, single submitter | VCV000213780 |
| - GRCh37:
- Chr15:67358644
- GRCh38:
- Chr15:67066306
| SMAD3 | L51R | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Dec 4, 2018) | criteria provided, single submitter | VCV000654754 |
| - GRCh37:
- Chr15:67358645
- GRCh38:
- Chr15:67066307
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (May 29, 2021) | criteria provided, single submitter | VCV001554453 |
| - GRCh37:
- Chr15:67358645
- GRCh38:
- Chr15:67066307
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jan 31, 2021) | criteria provided, single submitter | VCV001528625 |
| - GRCh37:
- Chr15:67358646
- GRCh38:
- Chr15:67066308
| SMAD3 | E52* | not provided, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Dec 15, 2020) | criteria provided, multiple submitters, no conflicts | VCV000213797 |
| - GRCh37:
- Chr15:67358649
- GRCh38:
- Chr15:67066311
| SMAD3 | K53E | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter | VCV001053739 |
| - GRCh37:
- Chr15:67358652
- GRCh38:
- Chr15:67066314
| SMAD3 | A54T | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter | VCV001449335 |
| - GRCh37:
- Chr15:67358654-67358668
- GRCh38:
- Chr15:67066316-67066330
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter | VCV000645262 |
| - GRCh37:
- Chr15:67358661
- GRCh38:
- Chr15:67066323
| SMAD3 | T57P | Loeys-Dietz syndrome | Uncertain significance (May 12, 2015) | criteria provided, single submitter | VCV000180523 |
| - GRCh37:
- Chr15:67358662
- GRCh38:
- Chr15:67066324
| SMAD3 | T57K | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Nov 13, 2021) | criteria provided, multiple submitters, no conflicts | VCV000925884 |
| - GRCh37:
- Chr15:67358667
- GRCh38:
- Chr15:67066329
| SMAD3 | N59D | not specified, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jan 12, 2021) | criteria provided, multiple submitters, no conflicts | VCV000373708 |
| - GRCh37:
- Chr15:67358669
- GRCh38:
- Chr15:67066331
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Oct 2, 2021) | criteria provided, single submitter | VCV001597652 |
| - GRCh37:
- Chr15:67358671
- GRCh38:
- Chr15:67066333
| SMAD3 | V60A | not provided | Uncertain significance (Sep 27, 2019) | criteria provided, single submitter | VCV001308896 |
| - GRCh37:
- Chr15:67358677
- GRCh38:
- Chr15:67066339
| SMAD3 | T62I | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Mar 8, 2021) | criteria provided, single submitter | VCV000915685 |
| - GRCh37:
- Chr15:67358681
- GRCh38:
- Chr15:67066343
| SMAD3 | K63N | Familial thoracic aortic aneurysm and aortic dissection, not provided | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts | VCV000451675 |
| - GRCh37:
- Chr15:67358682
- GRCh38:
- Chr15:67066344
| SMAD3 | C64R | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter | VCV000405564 |
| - GRCh37:
- Chr15:67358686
- GRCh38:
- Chr15:67066348
| SMAD3 | I65T | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter | VCV000477572 |
| - GRCh37:
- Chr15:67358687
- GRCh38:
- Chr15:67066349
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Mar 18, 2021) | criteria provided, multiple submitters, no conflicts | VCV000926025 |
| - GRCh37:
- Chr15:67358690
- GRCh38:
- Chr15:67066352
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Feb 2, 2021) | criteria provided, single submitter | VCV001171693 |
| - GRCh37:
- Chr15:67358697
- GRCh38:
- Chr15:67066359
| SMAD3 | R69G | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter | VCV000936472 |
| - GRCh37:
- Chr15:67358698
- GRCh38:
- Chr15:67066360
| SMAD3 | R69K | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter | VCV000837736 |
| - GRCh37:
- Chr15:67358699
- GRCh38:
- Chr15:67066361
| SMAD3 | | Loeys-Dietz syndrome | Likely pathogenic (Mar 16, 2018) | criteria provided, single submitter | VCV000667425 |
| - GRCh37:
- Chr15:67358700
- GRCh38:
- Chr15:67066362
| SMAD3 | | not provided | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter | VCV001677336 |
| - GRCh37:
- Chr15:67358701
- GRCh38:
- Chr15:67066363
| SMAD3 | | Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Feb 11, 2020) | criteria provided, multiple submitters, no conflicts | VCV000520181 |
| - GRCh37:
- Chr15:67358703
- GRCh38:
- Chr15:67066365
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (May 13, 2020) | criteria provided, single submitter | VCV001062796 |
| - GRCh37:
- Chr15:67358706
- GRCh38:
- Chr15:67066368
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Sep 25, 2020) | criteria provided, single submitter | VCV001147416 |
| - GRCh37:
- Chr15:67358707
- GRCh38:
- Chr15:67066369
| SMAD3 | | not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Feb 5, 2018) | criteria provided, single submitter | VCV000697978 |
| - GRCh37:
- Chr15:67358708
- GRCh38:
- Chr15:67066370
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jan 13, 2020) | criteria provided, single submitter | VCV001154068 |
| - GRCh37:
- Chr15:67358709
- GRCh38:
- Chr15:67066371
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome | Benign/Likely benign (Jun 24, 2021) | criteria provided, multiple submitters, no conflicts | VCV001330668 |
| - GRCh37:
- Chr15:67358713
- GRCh38:
- Chr15:67066375
| SMAD3 | | not provided | Likely benign (Mar 27, 2018) | criteria provided, single submitter | VCV000669928 |
| - GRCh37:
- Chr15:67358772
- GRCh38:
- Chr15:67066434
| SMAD3 | | not provided | Likely benign (Jun 26, 2018) | criteria provided, single submitter | VCV001208564 |
| - GRCh37:
- Chr15:67358882
- GRCh38:
- Chr15:67066544
| SMAD3 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter | VCV000674631 |