SMAD3[gene] - ClinVar

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See SMAD3 SMAD family member 3 in the Gene database

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 1548481.	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 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
Select item 6573872.	NC_000015.10:g.(?_66703239)_(67190556_?)del 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
Select item 5843983.	NC_000015.10:g.(?_66703239)_(67066380_?)del 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
Select item 3168514.	NM_005902.4(SMAD3):c.-280C>A 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
Select item 3168525.	NM_005902.4(SMAD3):c.-265T>G 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
Select item 3168536.	NM_005902.4(SMAD3):c.-244G>A 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
Select item 3168547.	NM_005902.4(SMAD3):c.-240G>T 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
Select item 3168558.	NM_005902.4(SMAD3):c.-217C>T GRCh37: Chr15:67358276 GRCh38: Chr15:67065938	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000316855
Select item 3168569.	NM_005902.4(SMAD3):c.-168C>A 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
Select item 31685710.	NM_005902.4(SMAD3):c.-164A>C 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
Select item 88468511.	NM_005902.4(SMAD3):c.-139C>G GRCh37: Chr15:67358354 GRCh38: Chr15:67066016	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000884685
Select item 31685812.	NM_005902.4(SMAD3):c.-115C>T 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
Select item 31685913.	NM_005902.4(SMAD3):c.-100C>T 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
Select item 88468614.	NM_005902.4(SMAD3):c.-38C>T GRCh37: Chr15:67358455 GRCh38: Chr15:67066117	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000884686
Select item 13921415.	NM_005902.4(SMAD3):c.-28C>T 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
Select item 13921516.	NM_005902.4(SMAD3):c.-23C>T 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
Select item 50631517.	NM_005902.4(SMAD3):c.-18C>T GRCh37: Chr15:67358475 GRCh38: Chr15:67066137	SMAD3		not specified	Likely benign (Oct 26, 2017)	criteria provided, single submitter	VCV000506315
Select item 117244918.	NM_005902.4(SMAD3):c.-17_-15delinsACA 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
Select item 13921619.	NM_005902.4(SMAD3):c.-15G>A 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
Select item 92230020.	NM_005902.4(SMAD3):c.-10C>T GRCh37: Chr15:67358483 GRCh38: Chr15:67066145	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 5, 2019)	criteria provided, single submitter	VCV000922300
Select item 92423321.	NM_005902.4(SMAD3):c.-2C>G GRCh37: Chr15:67358491 GRCh38: Chr15:67066153	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Dec 17, 2019)	criteria provided, single submitter	VCV000924233
Select item 28379322.	NM_005902.4(SMAD3):c.-1C>T 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
Select item 117263123.	NM_005902.4(SMAD3):c.1A>G (p.Met1Val) GRCh37: Chr15:67358493 GRCh38: Chr15:67066155	SMAD3	M1V	Aortic aneurysm	Pathogenic	criteria provided, single submitter	VCV001172631
Select item 93036024.	NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) 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
Select item 52018625.	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) GRCh37: Chr15:67358493 GRCh38: Chr15:67066155	SMAD3	M1L	Cardiovascular phenotype	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter	VCV000520186
Select item 117453026.	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) GRCh37: Chr15:67358495 GRCh38: Chr15:67066157	SMAD3	M1I	Aneurysm-osteoarthritis syndrome	Likely pathogenic (Sep 11, 2020)	criteria provided, single submitter	VCV001174530
Select item 45168927.	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter) 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
Select item 77004028.	NM_005902.4(SMAD3):c.6G>A (p.Ser2=) 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
Select item 26381429.	NM_005902.4(SMAD3):c.9C>T (p.Ser3=) GRCh37: Chr15:67358501 GRCh38: Chr15:67066163	SMAD3		Cardiovascular phenotype	Likely benign (Jan 27, 2014)	criteria provided, single submitter	VCV000263814
Select item 70197330.	NM_005902.4(SMAD3):c.12C>T (p.Ile4=) 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
Select item 21377831.	NM_005902.4(SMAD3):c.17C>T (p.Pro6Leu) GRCh37: Chr15:67358509 GRCh38: Chr15:67066171	SMAD3	P6L	not provided	Uncertain significance (Feb 9, 2014)	criteria provided, single submitter	VCV000213778
Select item 92043332.	NM_005902.4(SMAD3):c.21del (p.Phe7fs) GRCh37: Chr15:67358513 GRCh38: Chr15:67066175	SMAD3	F7fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Feb 22, 2019)	criteria provided, single submitter	VCV000920433
Select item 142794833.	NM_005902.4(SMAD3):c.23C>G (p.Thr8Ser) 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
Select item 54391434.	NM_005902.4(SMAD3):c.27C>T (p.Pro9=) 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
Select item 47757435.	NM_005902.4(SMAD3):c.34G>T (p.Val12Leu) 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
Select item 62939936.	NM_005902.4(SMAD3):c.36G>A (p.Val12=) 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
Select item 117216437.	NM_005902.4(SMAD3):c.46C>G (p.Leu16Val) 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
Select item 26462438.	NM_005902.4(SMAD3):c.48G>A (p.Leu16=) 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
Select item 74263139.	NM_005902.4(SMAD3):c.51C>T (p.Gly17=) 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
Select item 42091540.	NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) 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
Select item 117104841.	NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg) 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
Select item 74263242.	NM_005902.4(SMAD3):c.60G>A (p.Lys20=) 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
Select item 114067143.	NM_005902.4(SMAD3):c.63C>A (p.Gly21=) 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
Select item 74263344.	NM_005902.4(SMAD3):c.63C>G (p.Gly21=) 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
Select item 168394845.	NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys) GRCh37: Chr15:67358556 GRCh38: Chr15:67066218	SMAD3	E22K	not provided	Uncertain significance (May 4, 2022)	criteria provided, single submitter	VCV001683948
Select item 145423346.	NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs) 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
Select item 21375747.	NM_005902.4(SMAD3):c.66G>A (p.Glu22=) 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
Select item 91950548.	NM_005902.4(SMAD3):c.69G>A (p.Gln23=) GRCh37: Chr15:67358561 GRCh38: Chr15:67066223	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 30, 2019)	criteria provided, single submitter	VCV000919505
Select item 76518249.	NM_005902.4(SMAD3):c.72C>T (p.Asn24=) 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
Select item 57506150.	NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys) 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
Select item 47757851.	NM_005902.4(SMAD3):c.74G>T (p.Gly25Val) 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
Select item 92824852.	NM_005902.4(SMAD3):c.81G>A (p.Glu27=) GRCh37: Chr15:67358573 GRCh38: Chr15:67066235	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 26, 2019)	criteria provided, single submitter	VCV000928248
Select item 21377953.	NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) 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
Select item 98235554.	NM_005902.4(SMAD3):c.94G>T (p.Glu32Ter) GRCh37: Chr15:67358586 GRCh38: Chr15:67066248	SMAD3	E32*	Isolated thoracic aortic aneurysm	Likely pathogenic (Sep 1, 2018)	criteria provided, single submitter	VCV000982355
Select item 133394355.	NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) 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
Select item 62939756.	NM_005902.4(SMAD3):c.102G>T (p.Ala34=) 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
Select item 21378857.	NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del) 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
Select item 54389758.	NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile) 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
Select item 21380659.	NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) GRCh37: Chr15:67358602-67358607 GRCh38: Chr15:67066264-67066269	SMAD3		not provided	Conflicting interpretations of pathogenicity (Jun 1, 2019)	criteria provided, conflicting interpretations	VCV000213806
Select item 147589960.	NM_005902.4(SMAD3):c.115G>C (p.Val39Leu) 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
Select item 79517761.	NM_005902.4(SMAD3):c.117C>T (p.Val39=) 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
Select item 70564762.	NM_005902.4(SMAD3):c.117C>G (p.Val39=) 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
Select item 167745263.	NM_005902.4(SMAD3):c.119A>G (p.Lys40Arg) GRCh37: Chr15:67358611 GRCh38: Chr15:67066273	SMAD3	K40R	not provided	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter	VCV001677452
Select item 70564864.	NM_005902.4(SMAD3):c.126C>G (p.Leu42=) 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
Select item 47757065.	NM_005902.4(SMAD3):c.138del (p.Gln47fs) GRCh37: Chr15:67358627 GRCh38: Chr15:67066289	SMAD3	Q47fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Nov 27, 2019)	criteria provided, single submitter	VCV000477570
Select item 153923166.	NM_005902.4(SMAD3):c.138G>A (p.Gly46=) GRCh37: Chr15:67358630 GRCh38: Chr15:67066292	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 8, 2021)	criteria provided, single submitter	VCV001539231
Select item 92613767.	NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr) 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
Select item 117165768.	NM_005902.4(SMAD3):c.147C>T (p.Asp49=) GRCh37: Chr15:67358639 GRCh38: Chr15:67066301	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 5, 2021)	criteria provided, single submitter	VCV001171657
Select item 21378069.	NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys) GRCh37: Chr15:67358640 GRCh38: Chr15:67066302	SMAD3	E50K	not provided	Uncertain significance (May 7, 2015)	criteria provided, single submitter	VCV000213780
Select item 65475470.	NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg) 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
Select item 155445371.	NM_005902.4(SMAD3):c.153G>A (p.Leu51=) GRCh37: Chr15:67358645 GRCh38: Chr15:67066307	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 29, 2021)	criteria provided, single submitter	VCV001554453
Select item 152862572.	NM_005902.4(SMAD3):c.153G>T (p.Leu51=) GRCh37: Chr15:67358645 GRCh38: Chr15:67066307	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 31, 2021)	criteria provided, single submitter	VCV001528625
Select item 21379773.	NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) 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
Select item 105373974.	NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu) 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
Select item 144933575.	NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr) 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
Select item 64526276.	NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del) 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
Select item 18052377.	NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) GRCh37: Chr15:67358661 GRCh38: Chr15:67066323	SMAD3	T57P	Loeys-Dietz syndrome	Uncertain significance (May 12, 2015)	criteria provided, single submitter	VCV000180523
Select item 92588478.	NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys) 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
Select item 37370879.	NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) 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
Select item 159765280.	NM_005902.4(SMAD3):c.177C>T (p.Asn59=) GRCh37: Chr15:67358669 GRCh38: Chr15:67066331	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 2, 2021)	criteria provided, single submitter	VCV001597652
Select item 130889681.	NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) GRCh37: Chr15:67358671 GRCh38: Chr15:67066333	SMAD3	V60A	not provided	Uncertain significance (Sep 27, 2019)	criteria provided, single submitter	VCV001308896
Select item 91568582.	NM_005902.4(SMAD3):c.185C>T (p.Thr62Ile) 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
Select item 45167583.	NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) 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
Select item 40556484.	NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg) 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
Select item 47757285.	NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr) 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
Select item 92602586.	NM_005902.4(SMAD3):c.195C>T (p.Ile65=) 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
Select item 117169387.	NM_005902.4(SMAD3):c.198C>A (p.Thr66=) GRCh37: Chr15:67358690 GRCh38: Chr15:67066352	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 2, 2021)	criteria provided, single submitter	VCV001171693
Select item 93647288.	NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly) 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
Select item 83773689.	NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys) 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
Select item 66742590.	NM_005902.4(SMAD3):c.206+1G>C GRCh37: Chr15:67358699 GRCh38: Chr15:67066361	SMAD3		Loeys-Dietz syndrome	Likely pathogenic (Mar 16, 2018)	criteria provided, single submitter	VCV000667425
Select item 167733691.	NM_005902.4(SMAD3):c.206+2T>G GRCh37: Chr15:67358700 GRCh38: Chr15:67066362	SMAD3		not provided	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter	VCV001677336
Select item 52018192.	NM_005902.4(SMAD3):c.206+3G>T 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
Select item 106279693.	NM_005902.4(SMAD3):c.206+5G>A GRCh37: Chr15:67358703 GRCh38: Chr15:67066365	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 13, 2020)	criteria provided, single submitter	VCV001062796
Select item 114741694.	NM_005902.4(SMAD3):c.206+8C>A GRCh37: Chr15:67358706 GRCh38: Chr15:67066368	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 25, 2020)	criteria provided, single submitter	VCV001147416
Select item 69797895.	NM_005902.4(SMAD3):c.206+9C>T 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
Select item 115406896.	NM_005902.4(SMAD3):c.206+10C>T GRCh37: Chr15:67358708 GRCh38: Chr15:67066370	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 13, 2020)	criteria provided, single submitter	VCV001154068
Select item 133066897.	NM_005902.4(SMAD3):c.206+11G>T 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
Select item 66992898.	NM_005902.4(SMAD3):c.206+15G>C GRCh37: Chr15:67358713 GRCh38: Chr15:67066375	SMAD3		not provided	Likely benign (Mar 27, 2018)	criteria provided, single submitter	VCV000669928
Select item 120856499.	NM_005902.4(SMAD3):c.206+74G>A GRCh37: Chr15:67358772 GRCh38: Chr15:67066434	SMAD3		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter	VCV001208564
Select item 674631100.	NM_005902.4(SMAD3):c.206+184A>G GRCh37: Chr15:67358882 GRCh38: Chr15:67066544	SMAD3		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter	VCV000674631

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Clinical significance

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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

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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