4088[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548481.	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 GRCh37: Chr15:60120659-102461201 GRCh38: Chr15:59828460-101920998	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, LINC01418, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929439, LOC101929457, LOC101929586, LOC102723335, 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, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC125078098, LOC125078099, LOC125078100, LOC125078101, LOC125078102, LOC125078103, LOC125078104, LOC125110343, LOC125110344, LOC125110345, LOC125110346, LOC125110347, LOC125110348, LOC125110349, LOC125110350, LOC125110351, LOC125110352, LOC125110353, LOC125110354, LOC125110355, LOC125110356, LOC125110357, LOC125138289, LOC125138290, LOC125138291, LOC125138292, LOC125138293, LOC125138294, LOC125138295, LOC125138296, LOC125138297, LOC125138298, LOC125138299, LOC125138300, LOC125138301, LOC125138302, LOC125138303, LOC125138305, LOC125138306, LOC125138307, LOC125138308, LOC125138309, LOC125146351, LOC125146353, LOC125146354, LOC125146355, LOC125146356, LOC125146357, LOC125146359, LOC125146360, LOC125146361, LOC125146362, LOC125146363, LOC125146364, LOC125146365, LOC125146367, LOC125146368, LOC125146369, LOC125146370, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC126862154, LOC126862155, LOC126862156, LOC126862157, LOC126862158, LOC126862159, LOC126862160, LOC126862161, LOC126862162, LOC126862163, LOC126862164, LOC126862165, LOC126862166, LOC126862167, LOC126862168, LOC126862169, LOC126862170, LOC126862171, LOC126862172, LOC126862173, LOC126862174, LOC126862175, LOC126862176, LOC126862177, LOC126862178, LOC126862179, LOC126862180, LOC126862181, LOC126862182, LOC126862183, LOC126862184, LOC126862185, LOC126862186, LOC126862187, LOC126862188, LOC126862189, LOC126862190, LOC126862191, LOC126862192, LOC126862193, LOC126862194, LOC126862195, LOC126862196, LOC126862197, LOC126862198, LOC126862199, LOC126862200, LOC126862201, LOC126862202, LOC126862203, LOC126862204, LOC126862205, LOC126862206, LOC126862207, LOC126862208, LOC126862209, LOC126862210, LOC126862211, LOC126862212, LOC126862213, LOC126862214, LOC126862215, LOC126862216, LOC126862217, LOC126862218, LOC126862219, LOC126862220, LOC126862221, LOC126862222, LOC126862223, LOC126862224, LOC126862225, LOC126862226, LOC126862227, LOC126862228, LOC126862229, LOC126862230, LOC126862231, LOC126862232, LOC126862233, LOC126862234, LOC126862235, LOC126862236, LOC126862237, LOC126862238, LOC126862239, LOC126862240, LOC126862241, LOC126862242, LOC126862243, LOC126862244, LOC126862245, LOC126862246, LOC126862247, LOC126862248, LOC126862249, LOC126862250, LOC126862251, LOC126862252, LOC126862253, LOC126862254, LOC126862255, LOC126862256, LOC126862257, LOC126862258, LOC126862259, LOC128071545, 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, POLGARF, 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, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SLC51B, SIN3A, SKIC8, SKOR1, SKOR1-AS1, SLC24A1, SLC28A1, SLCO3A1, SMAD3, SMAD3-DT, SMAD6, SMASR, 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, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 6573872.	NC_000015.10:g.(?_66703239)_(67190556_?)del GRCh37: Chr15:66995577-67482894 GRCh38: Chr15:66703239-67190556	LOC110120917, LOC111365216, LOC111413015, LOC111413043, LOC121530586, LOC121847954, LOC125110346, LOC125110347, LOC125110348, LOC126862158, LOC126862159, LOC126862160, SMAD3, SMAD3-DT, SMAD6, SMASR		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 5843983.	NC_000015.10:g.(?_66703239)_(67066380_?)del GRCh37: Chr15:66995577-67358718 GRCh38: Chr15:66703239-67066380	LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC110120917, LOC111413015, LOC111413043, LOC121847954, SMAD3, SMAD3-DT, SMAD6, SMASR		Aortic valve disease 2, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jul 15, 2019)	criteria provided, conflicting interpretations
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
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 (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
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
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
Select item 3168558.	NM_005902.4(SMAD3):c.-217C>T GRCh37: Chr15:67358276 GRCh38: Chr15:67065938	SMAD3		Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3168569.	NM_005902.4(SMAD3):c.-168C>A GRCh37: Chr15:67358325 GRCh38: Chr15:67065987	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
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 (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
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
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
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
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
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
Select item 13921516.	NM_005902.4(SMAD3):c.-23C>T GRCh37: Chr15:67358470 GRCh38: Chr15:67066132	SMAD3		not specified, Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
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
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
Select item 13921619.	NM_005902.4(SMAD3):c.-15G>A GRCh37: Chr15:67358478 GRCh38: Chr15:67066140	SMAD3		not specified, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Benign (Aug 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 92230020.	NM_005902.4(SMAD3):c.-10C>T GRCh37: Chr15:67358483 GRCh38: Chr15:67066145	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome	Uncertain significance (Apr 1, 2020)	criteria provided, multiple submitters, no conflicts
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
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 (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
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
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
Select item 52018625.	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) GRCh37: Chr15:67358493 GRCh38: Chr15:67066155	SMAD3	M1L	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 117453026.	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) GRCh37: Chr15:67358495 GRCh38: Chr15:67066157	SMAD3	M1I	Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Pathogenic/Likely pathogenic (Sep 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 245241627.	NM_005902.4(SMAD3):c.5C>G (p.Ser2Trp) GRCh37: Chr15:67358497 GRCh38: Chr15:67066159	SMAD3	S2W	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 27, 2022)	criteria provided, single submitter
Select item 45168928.	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter) GRCh37: Chr15:67358497 GRCh38: Chr15:67066159	SMAD3	S2*	not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 77004029.	NM_005902.4(SMAD3):c.6G>A (p.Ser2=) GRCh37: Chr15:67358498 GRCh38: Chr15:67066160	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 10, 2020)	criteria provided, multiple submitters, no conflicts
Select item 26381430.	NM_005902.4(SMAD3):c.9C>T (p.Ser3=) GRCh37: Chr15:67358501 GRCh38: Chr15:67066163	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype	Likely benign (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70197331.	NM_005902.4(SMAD3):c.12C>T (p.Ile4=) GRCh37: Chr15:67358504 GRCh38: Chr15:67066166	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Aug 11, 2021)	criteria provided, conflicting interpretations
Select item 202963832.	NM_005902.4(SMAD3):c.15G>A (p.Leu5=) GRCh37: Chr15:67358507 GRCh38: Chr15:67066169	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 21377833.	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
Select item 92043334.	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
Select item 142794835.	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
Select item 179863636.	NM_005902.4(SMAD3):c.29dup (p.Ile11fs) GRCh37: Chr15:67358516-67358517 GRCh38: Chr15:67066178-67066179	SMAD3	I11fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 54391437.	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 (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 181076038.	NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala) GRCh37: Chr15:67358520 GRCh38: Chr15:67066182	SMAD3	P10A	Broad distal phalanx of the thumb	Likely pathogenic (Jan 11, 2023)	no assertion criteria provided
Select item 172763039.	NM_005902.4(SMAD3):c.30G>T (p.Pro10=) GRCh37: Chr15:67358522 GRCh38: Chr15:67066184	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171138440.	NM_005902.4(SMAD3):c.30G>A (p.Pro10=) GRCh37: Chr15:67358522 GRCh38: Chr15:67066184	SMAD3		not provided	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 47757441.	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 (Jul 6, 2022)	criteria provided, single submitter
Select item 214128142.	NM_005902.4(SMAD3):c.36G>C (p.Val12=) GRCh37: Chr15:67358528 GRCh38: Chr15:67066190	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 62939943.	NM_005902.4(SMAD3):c.36G>A (p.Val12=) GRCh37: Chr15:67358528 GRCh38: Chr15:67066190	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 245241544.	NM_005902.4(SMAD3):c.45G>C (p.Leu15=) GRCh37: Chr15:67358537 GRCh38: Chr15:67066199	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 19, 2022)	criteria provided, single submitter
Select item 117216445.	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
Select item 26462446.	NM_005902.4(SMAD3):c.48G>A (p.Leu16=) GRCh37: Chr15:67358540 GRCh38: Chr15:67066202	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 74263147.	NM_005902.4(SMAD3):c.51C>T (p.Gly17=) GRCh37: Chr15:67358543 GRCh38: Chr15:67066205	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 11, 2020)	criteria provided, single submitter
Select item 42091548.	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
Select item 117104849.	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
Select item 74263250.	NM_005902.4(SMAD3):c.60G>A (p.Lys20=) GRCh37: Chr15:67358552 GRCh38: Chr15:67066214	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 11, 2020)	criteria provided, single submitter
Select item 114067151.	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 (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74263352.	NM_005902.4(SMAD3):c.63C>G (p.Gly21=) GRCh37: Chr15:67358555 GRCh38: Chr15:67066217	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 168394853.	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
Select item 145423354.	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 (Jul 11, 2022)	criteria provided, single submitter
Select item 21375755.	NM_005902.4(SMAD3):c.66G>A (p.Glu22=) GRCh37: Chr15:67358558 GRCh38: Chr15:67066220	SMAD3		Loeys-Dietz syndrome, Ehlers-Danlos syndrome, not specified, Familial thoracic aortic aneurysm and aortic dissection	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91950556.	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
Select item 175763857.	NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser) GRCh37: Chr15:67358563 GRCh38: Chr15:67066225	SMAD3	N24S	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 76518258.	NM_005902.4(SMAD3):c.72C>T (p.Asn24=) GRCh37: Chr15:67358564 GRCh38: Chr15:67066226	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 57506159.	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
Select item 47757860.	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 (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203864761.	NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del) GRCh37: Chr15:67358569-67358571 GRCh38: Chr15:67066231-67066233	SMAD3	E28del	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 92824862.	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 (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21377963.	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 (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98235564.	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
Select item 133394365.	NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr) GRCh37: Chr15:67358592 GRCh38: Chr15:67066254	SMAD3	A34T	Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 175450966.	NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu) GRCh37: Chr15:67358593 GRCh38: Chr15:67066255	SMAD3	A34E	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 62939767.	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 (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21378868.	NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del) GRCh37: Chr15:67358594-67358605 GRCh38: Chr15:67066256-67066267	SMAD3		not provided, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179177769.	NM_005902.4(SMAD3):c.109del (p.Ser37fs) GRCh37: Chr15:67358601 GRCh38: Chr15:67066263	SMAD3	S37fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Apr 23, 2018)	criteria provided, single submitter
Select item 54389770.	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 (Feb 23, 2022)	criteria provided, single submitter
Select item 21380671.	NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) GRCh37: Chr15:67358602-67358607 GRCh38: Chr15:67066264-67066269	SMAD3		not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Aug 8, 2022)	criteria provided, conflicting interpretations
Select item 147589972.	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
Select item 79517773.	NM_005902.4(SMAD3):c.117C>T (p.Val39=) GRCh37: Chr15:67358609 GRCh38: Chr15:67066271	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 12, 2018)	criteria provided, single submitter
Select item 70564774.	NM_005902.4(SMAD3):c.117C>G (p.Val39=) GRCh37: Chr15:67358609 GRCh38: Chr15:67066271	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 1, 2020)	criteria provided, single submitter
Select item 167745275.	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
Select item 191041276.	NM_005902.4(SMAD3):c.123A>G (p.Lys41=) GRCh37: Chr15:67358615 GRCh38: Chr15:67066277	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 70564877.	NM_005902.4(SMAD3):c.126C>G (p.Leu42=) GRCh37: Chr15:67358618 GRCh38: Chr15:67066280	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 47757078.	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
Select item 180204079.	NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu) GRCh37: Chr15:67358629 GRCh38: Chr15:67066291	SMAD3	G46E	not provided	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 153923180.	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
Select item 92613781.	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
Select item 117165782.	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
Select item 21378083.	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
Select item 177459984.	NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro) GRCh37: Chr15:67358644 GRCh38: Chr15:67066306	SMAD3	L51P	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 65475485.	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
Select item 155445386.	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
Select item 152862587.	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
Select item 21379788.	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
Select item 105373989.	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
Select item 144933590.	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
Select item 64526291.	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
Select item 212834692.	NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe) GRCh37: Chr15:67358655 GRCh38: Chr15:67066317	SMAD3	I55F	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 177744993.	NM_005902.4(SMAD3):c.165C>T (p.Ile55=) GRCh37: Chr15:67358657 GRCh38: Chr15:67066319	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 18052394.	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
Select item 92588495.	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
Select item 37370896.	NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp) GRCh37: Chr15:67358667 GRCh38: Chr15:67066329	SMAD3	N59D	Familial thoracic aortic aneurysm and aortic dissection, not specified	Uncertain significance (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159765297.	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 (Jul 29, 2022)	criteria provided, single submitter
Select item 130889698.	NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) GRCh37: Chr15:67358671 GRCh38: Chr15:67066333	SMAD3	V60A	Familial thoracic aortic aneurysm and aortic dissection, not provided	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91568599.	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
Select item 1781654100.	NM_005902.4(SMAD3):c.186C>T (p.Thr62=) GRCh37: Chr15:67358678 GRCh38: Chr15:67066340	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 4, 2018)	criteria provided, single submitter

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