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Did you mean SMAD3 as a gene symbol? Search ClinVar for SMAD3

See SMAD3 SMAD family member 3 in the Gene database

Search results

Items: 1 to 100 of 786

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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 casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000154848
2.
GRCh37:
Chr15:66995577-67482894
GRCh38:
Chr15:66703239-67190556
LINC02206, LOC102723493, LOC110120917, LOC111365216, LOC111413015, LOC111413043, LOC121530586, LOC121847954, SMAD3, SMAD6Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 1, 2018)
criteria provided, single submitterVCV000657387
3.
GRCh37:
Chr15:66995577-67358718
GRCh38:
Chr15:66703239-67066380
LOC111413043, LOC121847954, LINC02206, LOC102723493, LOC110120917, LOC111413015, SMAD3, SMAD6Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jul 15, 2019)
criteria provided, single submitterVCV000584398
4.
GRCh37:
Chr15:67358213
GRCh38:
Chr15:67065875
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316851
5.
GRCh37:
Chr15:67358228
GRCh38:
Chr15:67065890
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316852
6.
GRCh37:
Chr15:67358249
GRCh38:
Chr15:67065911
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316853
7.
GRCh37:
Chr15:67358253
GRCh38:
Chr15:67065915
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316854
8.
GRCh37:
Chr15:67358276
GRCh38:
Chr15:67065938
SMAD3Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316855
9.
GRCh37:
Chr15:67358325
GRCh38:
Chr15:67065987
SMAD3Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316856
10.
GRCh37:
Chr15:67358329
GRCh38:
Chr15:67065991
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316857
11.
GRCh37:
Chr15:67358354
GRCh38:
Chr15:67066016
SMAD3Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884685
12.
GRCh37:
Chr15:67358378
GRCh38:
Chr15:67066040
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316858
13.
GRCh37:
Chr15:67358393
GRCh38:
Chr15:67066055
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316859
14.
GRCh37:
Chr15:67358455
GRCh38:
Chr15:67066117
SMAD3Aneurysm-osteoarthritis syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884686
15.
GRCh37:
Chr15:67358465
GRCh38:
Chr15:67066127
SMAD3not specified, Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000139214
16.
GRCh37:
Chr15:67358470
GRCh38:
Chr15:67066132
SMAD3Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome, not specified
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000139215
17.
GRCh37:
Chr15:67358475
GRCh38:
Chr15:67066137
SMAD3not specifiedLikely benign
(Oct 26, 2017)
criteria provided, single submitterVCV000506315
18.
GRCh37:
Chr15:67358476-67358478
GRCh38:
Chr15:67066138-67066140
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 5, 2020)
criteria provided, single submitterVCV001172449
19.
GRCh37:
Chr15:67358478
GRCh38:
Chr15:67066140
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, not specified
Benign
(Aug 16, 2019)
criteria provided, multiple submitters, no conflictsVCV000139216
20.
GRCh37:
Chr15:67358483
GRCh38:
Chr15:67066145
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 5, 2019)
criteria provided, single submitterVCV000922300
21.
GRCh37:
Chr15:67358491
GRCh38:
Chr15:67066153
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 17, 2019)
criteria provided, single submitterVCV000924233
22.
GRCh37:
Chr15:67358492
GRCh38:
Chr15:67066154
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not providedUncertain significance
(Feb 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000283793
23.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
SMAD3M1VAortic aneurysmPathogeniccriteria provided, single submitterVCV001172631
24.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
SMAD3M1LAneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic/Likely pathogenic
(Feb 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000930360
25.
GRCh37:
Chr15:67358493
GRCh38:
Chr15:67066155
SMAD3M1LCardiovascular phenotypeLikely pathogenic
(Apr 13, 2018)
criteria provided, single submitterVCV000520186
26.
GRCh37:
Chr15:67358495
GRCh38:
Chr15:67066157
SMAD3M1IAneurysm-osteoarthritis syndromeLikely pathogenic
(Sep 11, 2020)
criteria provided, single submitterVCV001174530
27.
GRCh37:
Chr15:67358497
GRCh38:
Chr15:67066159
SMAD3S2*Familial thoracic aortic aneurysm and aortic dissection, not providedPathogenic/Likely pathogenic
(Apr 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000451689
28.
GRCh37:
Chr15:67358498
GRCh38:
Chr15:67066160
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000770040
29.
GRCh37:
Chr15:67358501
GRCh38:
Chr15:67066163
SMAD3Cardiovascular phenotypeLikely benign
(Jan 27, 2014)
criteria provided, single submitterVCV000263814
30.
GRCh37:
Chr15:67358504
GRCh38:
Chr15:67066166
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not provided, Aneurysm-osteoarthritis syndrome
Conflicting interpretations of pathogenicity
(Aug 11, 2021)
criteria provided, conflicting interpretationsVCV000701973
31.
GRCh37:
Chr15:67358509
GRCh38:
Chr15:67066171
SMAD3P6Lnot providedUncertain significance
(Feb 9, 2014)
criteria provided, single submitterVCV000213778
32.
GRCh37:
Chr15:67358513
GRCh38:
Chr15:67066175
SMAD3F7fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Feb 22, 2019)
criteria provided, single submitterVCV000920433
33.
GRCh37:
Chr15:67358515
GRCh38:
Chr15:67066177
SMAD3T8SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV001427948
34.
GRCh37:
Chr15:67358519
GRCh38:
Chr15:67066181
SMAD3Familial thoracic aortic aneurysm and aortic dissectionBenign/Likely benign
(Oct 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000543914
35.
GRCh37:
Chr15:67358526
GRCh38:
Chr15:67066188
SMAD3V12LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 13, 2021)
criteria provided, single submitterVCV000477574
36.
GRCh37:
Chr15:67358528
GRCh38:
Chr15:67066190
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not providedLikely benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflictsVCV000629399
37.
GRCh37:
Chr15:67358538
GRCh38:
Chr15:67066200
SMAD3L16VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 5, 2021)
criteria provided, single submitterVCV001172164
38.
GRCh37:
Chr15:67358540
GRCh38:
Chr15:67066202
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
Likely benign
(Nov 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000264624
39.
GRCh37:
Chr15:67358543
GRCh38:
Chr15:67066205
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 11, 2020)
criteria provided, single submitterVCV000742631
40.
GRCh37:
Chr15:67358545
GRCh38:
Chr15:67066207
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic/Likely pathogenic
(Mar 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000420915
41.
GRCh37:
Chr15:67358548
GRCh38:
Chr15:67066210
SMAD3K19RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 29, 2020)
criteria provided, single submitterVCV001171048
42.
GRCh37:
Chr15:67358552
GRCh38:
Chr15:67066214
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 11, 2020)
criteria provided, single submitterVCV000742632
43.
GRCh37:
Chr15:67358555
GRCh38:
Chr15:67066217
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Apr 15, 2021)
criteria provided, multiple submitters, no conflictsVCV001140671
44.
GRCh37:
Chr15:67358555
GRCh38:
Chr15:67066217
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not providedLikely benign
(Dec 1, 2021)
criteria provided, single submitterVCV000742633
45.
GRCh37:
Chr15:67358556
GRCh38:
Chr15:67066218
SMAD3E22Knot providedUncertain significance
(May 4, 2022)
criteria provided, single submitterVCV001683948
46.
GRCh37:
Chr15:67358556-67358557
GRCh38:
Chr15:67066218-67066219
SMAD3N24fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jan 2, 2021)
criteria provided, single submitterVCV001454233
47.
GRCh37:
Chr15:67358558
GRCh38:
Chr15:67066220
SMAD3Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome,
not specified
Benign/Likely benign
(Nov 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000213757
48.
GRCh37:
Chr15:67358561
GRCh38:
Chr15:67066223
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 30, 2019)
criteria provided, single submitterVCV000919505
49.
GRCh37:
Chr15:67358564
GRCh38:
Chr15:67066226
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not providedLikely benign
(Jun 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000765182
50.
GRCh37:
Chr15:67358564
GRCh38:
Chr15:67066226
SMAD3N24KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV000575061
51.
GRCh37:
Chr15:67358566
GRCh38:
Chr15:67066228
SMAD3G25VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000477578
52.
GRCh37:
Chr15:67358573
GRCh38:
Chr15:67066235
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jul 26, 2019)
criteria provided, single submitterVCV000928248
53.
GRCh37:
Chr15:67358574
GRCh38:
Chr15:67066236
SMAD3E28*not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000213779
54.
GRCh37:
Chr15:67358586
GRCh38:
Chr15:67066248
SMAD3E32*Isolated thoracic aortic aneurysmLikely pathogenic
(Sep 1, 2018)
criteria provided, single submitterVCV000982355
55.
GRCh37:
Chr15:67358592
GRCh38:
Chr15:67066254
SMAD3A34TFamilial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeUncertain significance
(Nov 14, 2021)
criteria provided, multiple submitters, no conflictsVCV001333943
56.
GRCh37:
Chr15:67358594
GRCh38:
Chr15:67066256
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000629397
57.
GRCh37:
Chr15:67358594-67358605
GRCh38:
Chr15:67066256-67066267
SMAD3Familial thoracic aortic aneurysm and aortic dissection, not providedUncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000213788
58.
GRCh37:
Chr15:67358602
GRCh38:
Chr15:67066264
SMAD3S37IFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000543897
59.
GRCh37:
Chr15:67358602-67358607
GRCh38:
Chr15:67066264-67066269
SMAD3not providedConflicting interpretations of pathogenicity
(Jun 1, 2019)
criteria provided, conflicting interpretationsVCV000213806
60.
GRCh37:
Chr15:67358607
GRCh38:
Chr15:67066269
SMAD3V39LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 24, 2021)
criteria provided, single submitterVCV001475899
61.
GRCh37:
Chr15:67358609
GRCh38:
Chr15:67066271
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 19, 2018)
criteria provided, single submitterVCV000795177
62.
GRCh37:
Chr15:67358609
GRCh38:
Chr15:67066271
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 1, 2020)
criteria provided, single submitterVCV000705647
63.
GRCh37:
Chr15:67358611
GRCh38:
Chr15:67066273
SMAD3K40Rnot providedUncertain significance
(Oct 12, 2021)
criteria provided, single submitterVCV001677452
64.
GRCh37:
Chr15:67358618
GRCh38:
Chr15:67066280
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Aug 1, 2020)
criteria provided, single submitterVCV000705648
65.
GRCh37:
Chr15:67358627
GRCh38:
Chr15:67066289
SMAD3Q47fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Nov 27, 2019)
criteria provided, single submitterVCV000477570
66.
GRCh37:
Chr15:67358630
GRCh38:
Chr15:67066292
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 8, 2021)
criteria provided, single submitterVCV001539231
67.
GRCh37:
Chr15:67358637
GRCh38:
Chr15:67066299
SMAD3D49YFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 12, 2019)
criteria provided, single submitterVCV000926137
68.
GRCh37:
Chr15:67358639
GRCh38:
Chr15:67066301
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 5, 2021)
criteria provided, single submitterVCV001171657
69.
GRCh37:
Chr15:67358640
GRCh38:
Chr15:67066302
SMAD3E50Knot providedUncertain significance
(May 7, 2015)
criteria provided, single submitterVCV000213780
70.
GRCh37:
Chr15:67358644
GRCh38:
Chr15:67066306
SMAD3L51RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 4, 2018)
criteria provided, single submitterVCV000654754
71.
GRCh37:
Chr15:67358645
GRCh38:
Chr15:67066307
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(May 29, 2021)
criteria provided, single submitterVCV001554453
72.
GRCh37:
Chr15:67358645
GRCh38:
Chr15:67066307
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 31, 2021)
criteria provided, single submitterVCV001528625
73.
GRCh37:
Chr15:67358646
GRCh38:
Chr15:67066308
SMAD3E52*not provided, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Dec 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000213797
74.
GRCh37:
Chr15:67358649
GRCh38:
Chr15:67066311
SMAD3K53EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV001053739
75.
GRCh37:
Chr15:67358652
GRCh38:
Chr15:67066314
SMAD3A54TFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 24, 2021)
criteria provided, single submitterVCV001449335
76.
GRCh37:
Chr15:67358654-67358668
GRCh38:
Chr15:67066316-67066330
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV000645262
77.
GRCh37:
Chr15:67358661
GRCh38:
Chr15:67066323
SMAD3T57PLoeys-Dietz syndromeUncertain significance
(May 12, 2015)
criteria provided, single submitterVCV000180523
78.
GRCh37:
Chr15:67358662
GRCh38:
Chr15:67066324
SMAD3T57KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000925884
79.
GRCh37:
Chr15:67358667
GRCh38:
Chr15:67066329
SMAD3N59Dnot specified, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000373708
80.
GRCh37:
Chr15:67358669
GRCh38:
Chr15:67066331
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 2, 2021)
criteria provided, single submitterVCV001597652
81.
GRCh37:
Chr15:67358671
GRCh38:
Chr15:67066333
SMAD3V60Anot providedUncertain significance
(Sep 27, 2019)
criteria provided, single submitterVCV001308896
82.
GRCh37:
Chr15:67358677
GRCh38:
Chr15:67066339
SMAD3T62IFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 8, 2021)
criteria provided, single submitterVCV000915685
83.
GRCh37:
Chr15:67358681
GRCh38:
Chr15:67066343
SMAD3K63NFamilial thoracic aortic aneurysm and aortic dissection, not providedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000451675
84.
GRCh37:
Chr15:67358682
GRCh38:
Chr15:67066344
SMAD3C64RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 30, 2021)
criteria provided, single submitterVCV000405564
85.
GRCh37:
Chr15:67358686
GRCh38:
Chr15:67066348
SMAD3I65TFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 13, 2021)
criteria provided, single submitterVCV000477572
86.
GRCh37:
Chr15:67358687
GRCh38:
Chr15:67066349
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000926025
87.
GRCh37:
Chr15:67358690
GRCh38:
Chr15:67066352
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 2, 2021)
criteria provided, single submitterVCV001171693
88.
GRCh37:
Chr15:67358697
GRCh38:
Chr15:67066359
SMAD3R69GFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 27, 2021)
criteria provided, single submitterVCV000936472
89.
GRCh37:
Chr15:67358698
GRCh38:
Chr15:67066360
SMAD3R69KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 31, 2021)
criteria provided, single submitterVCV000837736
90.
GRCh37:
Chr15:67358699
GRCh38:
Chr15:67066361
SMAD3Loeys-Dietz syndromeLikely pathogenic
(Mar 16, 2018)
criteria provided, single submitterVCV000667425
91.
GRCh37:
Chr15:67358700
GRCh38:
Chr15:67066362
SMAD3not providedUncertain significance
(Jul 9, 2021)
criteria provided, single submitterVCV001677336
92.
GRCh37:
Chr15:67358701
GRCh38:
Chr15:67066363
SMAD3Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000520181
93.
GRCh37:
Chr15:67358703
GRCh38:
Chr15:67066365
SMAD3Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(May 13, 2020)
criteria provided, single submitterVCV001062796
94.
GRCh37:
Chr15:67358706
GRCh38:
Chr15:67066368
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001147416
95.
GRCh37:
Chr15:67358707
GRCh38:
Chr15:67066369
SMAD3not provided, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 5, 2018)
criteria provided, single submitterVCV000697978
96.
GRCh37:
Chr15:67358708
GRCh38:
Chr15:67066370
SMAD3Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 13, 2020)
criteria provided, single submitterVCV001154068
97.
GRCh37:
Chr15:67358709
GRCh38:
Chr15:67066371
SMAD3Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndromeBenign/Likely benign
(Jun 24, 2021)
criteria provided, multiple submitters, no conflictsVCV001330668
98.
GRCh37:
Chr15:67358713
GRCh38:
Chr15:67066375
SMAD3not providedLikely benign
(Mar 27, 2018)
criteria provided, single submitterVCV000669928
99.
GRCh37:
Chr15:67358772
GRCh38:
Chr15:67066434
SMAD3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001208564
100.
GRCh37:
Chr15:67358882
GRCh38:
Chr15:67066544
SMAD3not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000674631
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