SMAD3[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11726311.	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 9303602.	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 5201863.	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 11745304.	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 4516895.	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 9204336.	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 17986367.	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 18107608.	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 4209159.	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 145423310.	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 21377911.	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 98235512.	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 179177713.	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 47757014.	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 21379715.	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 66742516.	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
Select item 54391517.	NC_000015.9:g.(?_67457213)_(67462962_?)dup GRCh37: Chr15:67457213-67462962 GRCh38: Chr15:67164875-67170624	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 200649118.	NM_005902.4(SMAD3):c.207-10_280delinsA GRCh37: Chr15:67457223-67457306 GRCh38: Chr15:67164885-67164968	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 95018419.	NM_005902.4(SMAD3):c.207-1G>C GRCh37: Chr15:67457232 GRCh38: Chr15:67164894	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 106695720.	NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr) GRCh37: Chr15:67457235 GRCh38: Chr15:67164897	SMAD3	S26Y, S70Y	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 26809121.	NM_005902.4(SMAD3):c.228G>T (p.Gln76His) GRCh37: Chr15:67457254 GRCh38: Chr15:67164916	SMAD3	Q76H, Q32H	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 47757122.	NM_005902.4(SMAD3):c.246dup (p.Leu83fs) GRCh37: Chr15:67457268-67457269 GRCh38: Chr15:67164930-67164931	SMAD3	L39fs, L83fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40556523.	NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs) GRCh37: Chr15:67457271-67457272 GRCh38: Chr15:67164933-67164934	SMAD3	L39fs, L83fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Nov 24, 2016)	criteria provided, single submitter
Select item 21380724.	NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter) GRCh37: Chr15:67457288-67457289 GRCh38: Chr15:67164950-67164951	SMAD3	Y44, Y88	not provided	Pathogenic (Oct 16, 2014)	criteria provided, single submitter
Select item 69438125.	NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup) GRCh37: Chr15:67457291-67457292 GRCh38: Chr15:67164953-67164954	SMAD3		Aneurysm-osteoarthritis syndrome	Pathogenic (Jul 19, 2019)	criteria provided, single submitter
Select item 21378926.	NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) GRCh37: Chr15:67457301-67457307 GRCh38: Chr15:67164963-67164969	SMAD3		not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140107227.	NM_005902.4(SMAD3):c.276G>A (p.Trp92Ter) GRCh37: Chr15:67457302 GRCh38: Chr15:67164964	SMAD3	W92, W48	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Nov 25, 2021)	criteria provided, single submitter
Select item 21378128.	NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) GRCh37: Chr15:67457303 GRCh38: Chr15:67164965	SMAD3	R93, R49	not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139586829.	NM_005902.4(SMAD3):c.281G>A (p.Trp94Ter) GRCh37: Chr15:67457307 GRCh38: Chr15:67164969	SMAD3	W50, W94	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 97587930.	NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) GRCh37: Chr15:67457330 GRCh38: Chr15:67164992	SMAD3	E102, E58	Aneurysm-osteoarthritis syndrome	Likely pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 3031331.	NM_005902.4(SMAD3):c.313del (p.Ala105fs) GRCh37: Chr15:67457337 GRCh38: Chr15:67164999	SMAD3	A61fs, A105fs	Aneurysm-osteoarthritis syndrome	Pathogenic (Jan 1, 2012)	no assertion criteria provided
Select item 69438232.	NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) GRCh37: Chr15:67457360-67457361 GRCh38: Chr15:67165022-67165023	SMAD3	A7L, A112L, A68L	Aneurysm-osteoarthritis syndrome	Likely pathogenic (Jul 19, 2019)	criteria provided, single submitter
Select item 15583633.	NM_005902.4(SMAD3):c.364G>A (p.Val122Met) GRCh37: Chr15:67457390 GRCh38: Chr15:67165052	SMAD3	V122M, V17M, V78M	Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173523034.	NM_005902.4(SMAD3):c.381C>A (p.Tyr127Ter) GRCh37: Chr15:67457407 GRCh38: Chr15:67165069	SMAD3	Y78, Y22, Y83, Y127	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 30, 2019)	criteria provided, single submitter
Select item 145356735.	NM_005902.4(SMAD3):c.382C>T (p.Gln128Ter) GRCh37: Chr15:67457408 GRCh38: Chr15:67165070	SMAD3	Q84, Q128, Q23*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 30, 2021)	criteria provided, single submitter
Select item 21379036.	NM_005902.4(SMAD3):c.387_388del (p.Arg129fs) GRCh37: Chr15:67457409-67457410 GRCh38: Chr15:67165071-67165072	SMAD3	R24fs, R129fs, R85fs	not provided	Likely pathogenic (Apr 15, 2016)	criteria provided, single submitter
Select item 63640937.	NM_005902.4(SMAD3):c.398del (p.Pro133fs) GRCh37: Chr15:67457423 GRCh38: Chr15:67165085	SMAD3	P28fs, P133fs, P89fs	not provided	Likely pathogenic (May 19, 2017)	criteria provided, single submitter
Select item 21378238.	NM_005902.4(SMAD3):c.401-6G>A GRCh37: Chr15:67457585 GRCh38: Chr15:67165247	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Connective tissue disorder	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40556939.	NM_005902.4(SMAD3):c.427_431del (p.His143fs) GRCh37: Chr15:67457616-67457620 GRCh38: Chr15:67165278-67165282	SMAD3	H99fs, H38fs, H143fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jun 20, 2017)	criteria provided, single submitter
Select item 132928440.	NM_005902.4(SMAD3):c.431_432del (p.Thr144fs) GRCh37: Chr15:67457617-67457618 GRCh38: Chr15:67165279-67165280	SMAD3	T100fs, T144fs, T39fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 3, 2020)	criteria provided, single submitter
Select item 243152141.	NM_005902.4(SMAD3):c.435_436del (p.Glu145fs) GRCh37: Chr15:67457622-67457623 GRCh38: Chr15:67165284-67165285	SMAD3	E101fs, E145fs, E40fs	Aneurysm-osteoarthritis syndrome	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 133079842.	NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) GRCh37: Chr15:67457633-67457643 GRCh38: Chr15:67165295-67165305	SMAD3	E105fs, E149fs, E44fs	Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Pathogenic/Likely pathogenic (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21379243.	NM_005902.4(SMAD3):c.455del (p.Pro152fs) GRCh37: Chr15:67457640 GRCh38: Chr15:67165302	SMAD3	P47fs, P108fs, P152fs	not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21380844.	NM_005902.4(SMAD3):c.483del (p.Glu162fs) GRCh37: Chr15:67457670 GRCh38: Chr15:67165332	SMAD3	E162fs, E118fs, E57fs	not provided	Pathogenic (Sep 11, 2014)	criteria provided, single submitter
Select item 215224845.	NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) GRCh37: Chr15:67457681-67457682 GRCh38: Chr15:67165343-67165344	SMAD3	N165, N60, N121*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 65086946.	NM_005902.4(SMAD3):c.517del (p.Gln173fs) GRCh37: Chr15:67457704 GRCh38: Chr15:67165366	SMAD3	Q173fs, Q68fs, Q129fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Apr 10, 2019)	criteria provided, single submitter
Select item 117286047.	NM_005902.4(SMAD3):c.532+1G>C GRCh37: Chr15:67457723 GRCh38: Chr15:67165385	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132928648.	NM_005902.4(SMAD3):c.533-1G>A GRCh37: Chr15:67459116 GRCh38: Chr15:67166778	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Mar 3, 2021)	criteria provided, single submitter
Select item 44028949.	NM_005902.4(SMAD3):c.539del (p.Pro180fs) GRCh37: Chr15:67459120 GRCh38: Chr15:67166782	SMAD3	P136fs, P180fs, P75fs	not specified	Pathogenic (Apr 21, 2017)	criteria provided, single submitter
Select item 85761450.	NM_005902.4(SMAD3):c.545dup (p.Gly183fs) GRCh37: Chr15:67459124-67459125 GRCh38: Chr15:67166786-67166787	SMAD3	G78fs, G139fs, G183fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 92764051.	NM_005902.4(SMAD3):c.546del (p.Gly183fs) GRCh37: Chr15:67459130 GRCh38: Chr15:67166792	SMAD3	G183fs, G139fs, G78fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 20, 2019)	criteria provided, single submitter
Select item 94192652.	NM_005902.4(SMAD3):c.552C>G (p.Tyr184Ter) GRCh37: Chr15:67459136 GRCh38: Chr15:67166798	SMAD3	Y140, Y184, Y79*	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 24, 2019)	criteria provided, single submitter
Select item 170228353.	NM_005902.4(SMAD3):c.594del (p.His198fs) GRCh37: Chr15:67459178 GRCh38: Chr15:67166840	SMAD3	H154fs, H198fs, H3fs, H93fs	Ehlers-Danlos syndrome	Likely pathogenic (Apr 1, 2020)	criteria provided, single submitter
Select item 52050354.	NM_005902.4(SMAD3):c.648del (p.His216fs) GRCh37: Chr15:67462932 GRCh38: Chr15:67170594	SMAD3	H216fs, H111fs, H172fs, H21fs	not provided	Likely pathogenic (Oct 27, 2016)	criteria provided, single submitter
Select item 3030955.	NM_005902.4(SMAD3):c.653del (p.Asn218fs) GRCh37: Chr15:67462936 GRCh38: Chr15:67170598	SMAD3	N218fs, N23fs, N113fs, N174fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58406356.	NC_000015.10:g.(?_67181221)_(67181473_?)del GRCh37: Chr15:67473559-67473811 GRCh38: Chr15:67181221-67181473	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 69438457.	NM_005902.4(SMAD3):c.668del (p.Pro223fs) GRCh37: Chr15:67473587 GRCh38: Chr15:67181249	SMAD3	P118fs, P179fs, P223fs, P28fs	Aneurysm-osteoarthritis syndrome	Pathogenic (Jul 19, 2019)	criteria provided, single submitter
Select item 202494158.	NM_005902.4(SMAD3):c.695G>A (p.Trp232Ter) GRCh37: Chr15:67473615 GRCh38: Chr15:67181277	SMAD3	W127, W83, W183, W188, W232, W37	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 180666359.	NM_005902.4(SMAD3):c.696G>A (p.Trp232Ter) GRCh37: Chr15:67473616 GRCh38: Chr15:67181278	SMAD3	W127, W183, W188, W232, W37, W83	not provided	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 209059260.	NM_005902.4(SMAD3):c.714C>A (p.Tyr238Ter) GRCh37: Chr15:67473634 GRCh38: Chr15:67181296	SMAD3	Y238, Y89, Y189, Y43, Y133, Y194	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 1, 2022)	criteria provided, single submitter
Select item 3031161.	NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) GRCh37: Chr15:67473635 GRCh38: Chr15:67181297	SMAD3	E239K, E195K, E134K, E44K	not provided, Aneurysm-osteoarthritis syndrome	Likely pathogenic (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69438062.	NM_005902.4(SMAD3):c.736del (p.Glu246fs) GRCh37: Chr15:67473653 GRCh38: Chr15:67181315	SMAD3	E141fs, E202fs, E246fs, E51fs	Aneurysm-osteoarthritis syndrome	Pathogenic (Jul 19, 2019)	criteria provided, single submitter
Select item 52017963.	NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) GRCh37: Chr15:67473653 GRCh38: Chr15:67181315	SMAD3	G245R, G140R, G50R, G201R	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62513064.	NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) GRCh37: Chr15:67473656-67473657 GRCh38: Chr15:67181318-67181319	SMAD3	F143fs, F248fs, F204fs, F53fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 20, 2018)	criteria provided, single submitter
Select item 3030765.	NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) GRCh37: Chr15:67473661-67473662 GRCh38: Chr15:67181323-67181324	SMAD3	F204fs, F143fs, F248fs, F53fs	Aneurysm-osteoarthritis syndrome	Pathogenic (Feb 1, 2011)	no assertion criteria provided
Select item 138421466.	NM_005902.4(SMAD3):c.745del (p.His249fs) GRCh37: Chr15:67473664 GRCh38: Chr15:67181326	SMAD3	H144fs, H249fs, H205fs, H54fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 81781567.	NM_005902.4(SMAD3):c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met255fs) GRCh37: Chr15:67473671-67473672 GRCh38: Chr15:67181333-67181334	SMAD3	M150fs, M211fs, M255fs, M60fs	not provided	Likely pathogenic (Sep 7, 2018)	criteria provided, single submitter
Select item 62044368.	NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) GRCh37: Chr15:67473674 GRCh38: Chr15:67181336	SMAD3	Q252, Q208, Q57, Q147	not provided, Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Aug 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 49875569.	NM_005902.4(SMAD3):c.769del (p.Val257fs) GRCh37: Chr15:67473689 GRCh38: Chr15:67181351	SMAD3	V213fs, V62fs, V152fs, V257fs	not provided	Pathogenic (Dec 29, 2016)	criteria provided, single submitter
Select item 21376370.	NM_005902.4(SMAD3):c.772G>C (p.Asp258His) GRCh37: Chr15:67473692 GRCh38: Chr15:67181354	SMAD3	D258H, D214H, D63H, D153H	not provided, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147564271.	NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu) GRCh37: Chr15:67473700 GRCh38: Chr15:67181362	SMAD3	F155L, F216L, F260L, F65L	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 3030872.	NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) GRCh37: Chr15:67473702 GRCh38: Chr15:67181364	SMAD3	T261I, T156I, T217I, T66I	Aneurysm-osteoarthritis syndrome	Pathogenic (Feb 1, 2011)	no assertion criteria provided
Select item 106667873.	NM_005902.4(SMAD3):c.785A>T (p.Asp262Val) GRCh37: Chr15:67473705 GRCh38: Chr15:67181367	SMAD3	D157V, D218V, D262V, D67V	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 83406074.	NM_005902.4(SMAD3):c.789del (p.Ser264fs) GRCh37: Chr15:67473706 GRCh38: Chr15:67181368	SMAD3	S159fs, S264fs, S220fs, S69fs	Aneurysm-osteoarthritis syndrome	Likely pathogenic	no assertion criteria provided
Select item 21376475.	NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala) GRCh37: Chr15:67473707 GRCh38: Chr15:67181369	SMAD3	P263A, P219A, P158A, P68A	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 40553776.	NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) GRCh37: Chr15:67473717 GRCh38: Chr15:67181379	SMAD3	S266, S161, S71, S222	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19818777.	NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) GRCh37: Chr15:67473722 GRCh38: Chr15:67181384	SMAD3	R268C, R73C, R224C, R163C	not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21376678.	NM_005902.4(SMAD3):c.803G>A (p.Arg268His) GRCh37: Chr15:67473723 GRCh38: Chr15:67181385	SMAD3	R268H, R73H, R163H, R224H	not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Jan 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133452779.	NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) GRCh37: Chr15:67473728-67473732 GRCh38: Chr15:67181390-67181394	SMAD3	C165fs, C226fs, C270fs, C75fs	Aneurysm-osteoarthritis syndrome	Likely pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 21376780.	NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro) GRCh37: Chr15:67473741 GRCh38: Chr15:67181403	SMAD3	L274P, L169P, L230P, L79P	not provided	Likely pathogenic (Dec 27, 2013)	criteria provided, single submitter
Select item 3031081.	NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) GRCh37: Chr15:67473756 GRCh38: Chr15:67181418	SMAD3	R279K, R174K, R235K, R84K	Aneurysm-osteoarthritis syndrome	Pathogenic (Sep 2, 2011)	no assertion criteria provided
Select item 62513182.	NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) GRCh37: Chr15:67473768 GRCh38: Chr15:67181430	SMAD3	V283E, V178E, V88E, V239E	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 20, 2018)	criteria provided, single submitter
Select item 62513283.	NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) GRCh37: Chr15:67473771 GRCh38: Chr15:67181433	SMAD3	E284G, E240G, E179G, E89G	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 20, 2018)	criteria provided, single submitter
Select item 57359784.	NM_005902.4(SMAD3):c.851_864del (p.Glu284fs) GRCh37: Chr15:67473771-67473784 GRCh38: Chr15:67181433-67181446	SMAD3	E89fs, E240fs, E284fs, E179fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 9, 2019)	criteria provided, single submitter
Select item 3030685.	NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) GRCh37: Chr15:67473779 GRCh38: Chr15:67181441	SMAD3	R287W, R182W, R92W, R243W	Ehlers-Danlos syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18052486.	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) GRCh37: Chr15:67473780 GRCh38: Chr15:67181442	SMAD3	R287Q, R182Q, R243Q, R92Q	Connective tissue disorder, not provided, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107095087.	NM_005902.4(SMAD3):c.862_869dup (p.Gly291fs) GRCh37: Chr15:67473781-67473782 GRCh38: Chr15:67181443-67181444	SMAD3	G186fs, G247fs, G291fs, G96fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 52018288.	NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter) GRCh37: Chr15:67473791 GRCh38: Chr15:67181453	SMAD3	G291, G247, G186, G96	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 93234389.	NM_005902.4(SMAD3):c.871+1G>T GRCh37: Chr15:67473792 GRCh38: Chr15:67181454	SMAD3		not provided	Likely pathogenic (May 1, 2020)	criteria provided, single submitter
Select item 69211090.	NM_005902.4(SMAD3):c.871+1G>A GRCh37: Chr15:67473792 GRCh38: Chr15:67181454	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Ascending aortic dissection	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21379591.	NM_005902.4(SMAD3):c.871+2T>C GRCh37: Chr15:67473793 GRCh38: Chr15:67181455	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 176445292.	NM_005902.4(SMAD3):c.872-2_881del GRCh37: Chr15:67477061-67477072 GRCh38: Chr15:67184723-67184734	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 196896293.	NM_005902.4(SMAD3):c.872-2A>G GRCh37: Chr15:67477063 GRCh38: Chr15:67184725	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 132928794.	NM_005902.4(SMAD3):c.872-1G>A GRCh37: Chr15:67477064 GRCh38: Chr15:67184726	SMAD3		Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (May 28, 2021)	criteria provided, single submitter
Select item 54390495.	NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) GRCh37: Chr15:67477065 GRCh38: Chr15:67184727	SMAD3	G291V, G247V, G186V, G96V	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 69438396.	NM_005902.4(SMAD3):c.874del (p.Arg292fs) GRCh37: Chr15:67477066 GRCh38: Chr15:67184728	SMAD3	R187fs, R248fs, R292fs, R97fs	Aneurysm-osteoarthritis syndrome	Pathogenic (Jul 19, 2019)	criteria provided, single submitter
Select item 202795397.	NM_005902.4(SMAD3):c.881dup (p.Arg295fs) GRCh37: Chr15:67477073-67477074 GRCh38: Chr15:67184735-67184736	SMAD3	R100fs, R251fs, R295fs, R190fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 40556698.	NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs) GRCh37: Chr15:67477093-67477094 GRCh38: Chr15:67184755-67184756	SMAD3	E107fs, E302fs, E197fs, E258fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (May 6, 2017)	criteria provided, single submitter
Select item 65315599.	NM_005902.4(SMAD3):c.904del (p.Glu302fs) GRCh37: Chr15:67477094 GRCh38: Chr15:67184756	SMAD3	E258fs, E197fs, E302fs, E107fs	Familial thoracic aortic aneurysm and aortic dissection	Pathogenic (Aug 20, 2018)	criteria provided, single submitter
Select item 1709587100.	NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter) GRCh37: Chr15:67477109 GRCh38: Chr15:67184771	SMAD3	E111, E157, E201, E257, E262, E306	Aneurysm-osteoarthritis syndrome	Likely pathogenic (Jun 28, 2022)	criteria provided, single submitter

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