ClinVar for MedGen (Select 462437) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24361151.	NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr) GRCh37: Chr15:67459174 GRCh38: Chr15:67166836	SMAD3	N148T, N153T, N197T, N2T, N48T, N92T	Aneurysm-osteoarthritis syndrome	Uncertain significance (Feb 8, 2021)	criteria provided, single submitter
Select item 24315212.	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 18063823.	NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg) GRCh37: Chr15:67482776 GRCh38: Chr15:67190438	SMAD3	C199R, C245R, C289R, C345R, C348R, C350R, C394R, C431R	Aneurysm-osteoarthritis syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 18050204.	NM_005902.4(SMAD3):c.207-26806G>T GRCh37: Chr15:67430427 GRCh38: Chr15:67138089	SMAD3	W21C	Aneurysm-osteoarthritis syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 17100085.	NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu) GRCh37: Chr15:67473727 GRCh38: Chr15:67181389	SMAD3	F120L, F164L, F220L, F225L, F269L, F74L	Aneurysm-osteoarthritis syndrome	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 17095876.	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
Select item 17092457.	NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp) GRCh37: Chr15:67457361 GRCh38: Chr15:67165023	SMAD3	A112D, A63D, A68D, A7D	Aneurysm-osteoarthritis syndrome	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 17000088.	NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) GRCh37: Chr15:67473621 GRCh38: Chr15:67181283	SMAD3	S129F, S190F, S234F, S39F	Aneurysm-osteoarthritis syndrome, Ehlers-Danlos syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13345279.	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 133394410.	NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg) GRCh37: Chr15:67457424 GRCh38: Chr15:67165086	SMAD3	P133R, P28R, P89R	Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 30, 2020)	criteria provided, single submitter
Select item 133394311.	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 133210312.	NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) GRCh37: Chr15:67477160 GRCh38: Chr15:67184822	SMAD3	R128C, R218C, R279C, R323C	not specified, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133079813.	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 133066814.	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 (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133056515.	NM_005902.4(SMAD3):c.658+15G>C GRCh37: Chr15:67462957 GRCh38: Chr15:67170619	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Likely benign (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130326116.	NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) GRCh37: Chr15:67457343 GRCh38: Chr15:67165005	SMAD3	M106T, M1T, M62T	Aneurysm-osteoarthritis syndrome, not provided	Uncertain significance (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117453017.	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 99364118.	NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) GRCh37: Chr15:67457310 GRCh38: Chr15:67164972	SMAD3	P51L, P95L	Aneurysm-osteoarthritis syndrome	Uncertain significance (Aug 8, 2020)	criteria provided, single submitter
Select item 98259519.	NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) GRCh37: Chr15:67457330 GRCh38: Chr15:67164992	SMAD3	E102K, E58K	Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97587920.	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 93036021.	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 92210922.	NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) GRCh37: Chr15:67462927 GRCh38: Chr15:67170589	SMAD3	A215T, A20T, A110T, A171T	Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88802523.	NM_005902.4(SMAD3):c.*1455G>C GRCh37: Chr15:67484329 GRCh38: Chr15:67191991	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88802424.	NM_005902.4(SMAD3):c.*1316G>A GRCh37: Chr15:67484190 GRCh38: Chr15:67191852	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88581925.	NM_005902.4(SMAD3):c.*1915G>A GRCh37: Chr15:67484789 GRCh38: Chr15:67192451	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88575026.	NM_005902.4(SMAD3):c.*1159A>G GRCh37: Chr15:67484033 GRCh38: Chr15:67191695	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88574927.	NM_005902.4(SMAD3):c.*937T>C GRCh37: Chr15:67483811 GRCh38: Chr15:67191473	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88574828.	NM_005902.4(SMAD3):c.*805G>A GRCh37: Chr15:67483679 GRCh38: Chr15:67191341	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88574729.	NM_005902.4(SMAD3):c.*804C>T GRCh37: Chr15:67483678 GRCh38: Chr15:67191340	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88569430.	NM_005902.4(SMAD3):c.*30C>T GRCh37: Chr15:67482904 GRCh38: Chr15:67190566	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88497231.	NM_005902.4(SMAD3):c.*2786T>A GRCh37: Chr15:67485660 GRCh38: Chr15:67193322	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88489832.	NM_005902.4(SMAD3):c.*1583T>G GRCh37: Chr15:67484457 GRCh38: Chr15:67192119	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88489733.	NM_005902.4(SMAD3):c.*1561A>T GRCh37: Chr15:67484435 GRCh38: Chr15:67192097	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 88481734.	NM_005902.4(SMAD3):c.*594C>T GRCh37: Chr15:67483468 GRCh38: Chr15:67191130	SMAD3		Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88468635.	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 88468536.	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 87107237.	NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) GRCh37: Chr15:67457360 GRCh38: Chr15:67165022	SMAD3	A112T, A7T, A68T	not provided, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83840138.	NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) GRCh37: Chr15:67457638 GRCh38: Chr15:67165300	SMAD3	F106L, F45L, F150L	Aneurysm-osteoarthritis syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83406039.	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 81154340.	NM_005902.4(SMAD3):c.207-14637C>T GRCh37: Chr15:67442596 GRCh38: Chr15:67150258	SMAD3		Aneurysm-osteoarthritis syndrome	Benign (Jul 25, 2018)	criteria provided, single submitter
Select item 80310241.	NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) GRCh37: Chr15:67479787 GRCh38: Chr15:67187449	SMAD3	Q321L, Q170L, Q260L, Q365L	Aneurysm-osteoarthritis syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 70197342.	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 70008343.	NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) GRCh37: Chr15:67479752 GRCh38: Chr15:67187414	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 69438544.	NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) GRCh37: Chr15:67477184 GRCh38: Chr15:67184846	SMAD3	V136F, V226F, V287F, V331F	Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69438445.	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 69438346.	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 69438247.	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 69438148.	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 69438049.	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 62586150.	NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) GRCh37: Chr15:67482753 GRCh38: Chr15:67190415	SMAD3	R386T, R281T, R191T, R342T	Aneurysm-osteoarthritis syndrome	Uncertain significance (Dec 3, 2018)	criteria provided, single submitter
Select item 57553251.	NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe) GRCh37: Chr15:66995978 GRCh38: Chr15:66703640	SMAD6	L128F	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 57308252.	NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) GRCh37: Chr15:66996252 GRCh38: Chr15:66703914	SMAD6	P219R	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 57054653.	NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) GRCh37: Chr15:67073794-67073795 GRCh38: Chr15:66781456-66781457	SMAD6	G471fs	Aneurysm-osteoarthritis syndrome	Uncertain significance (Mar 9, 2018)	criteria provided, single submitter
Select item 54389154.	NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) GRCh37: Chr15:67477101 GRCh38: Chr15:67184763	SMAD3	V303D, V198D, V108D, V259D	Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53911455.	NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) GRCh37: Chr15:66995835 GRCh38: Chr15:66703497	SMAD6	A80V	Aneurysm-osteoarthritis syndrome, Aortic valve disease 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 53911256.	NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) GRCh37: Chr15:67073827 GRCh38: Chr15:66781489	SMAD6	T482S	Aneurysm-osteoarthritis syndrome, Aortic valve disease 2	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 47757957.	NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) GRCh37: Chr15:67473707 GRCh38: Chr15:67181369	SMAD3	P263S, P158S, P68S, P219S	Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47176458.	NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) GRCh37: Chr15:67004029 GRCh38: Chr15:66711691	SMAD6	R281W	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 47176359.	NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) GRCh37: Chr15:66996410 GRCh38: Chr15:66704072	SMAD6	P272S	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 47175960.	NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) GRCh37: Chr15:66995638 GRCh38: Chr15:66703300	SMAD6	W14*	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome, not provided	Uncertain significance (Jul 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 47175861.	NM_005585.5(SMAD6):c.411G>C (p.Ala137=) GRCh37: Chr15:66996007 GRCh38: Chr15:66703669	SMAD6		Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 47175662.	NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) GRCh37: Chr15:66995598 GRCh38: Chr15:66703260	SMAD6	M1R	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 47175163.	NM_005585.5(SMAD6):c.192C>T (p.Ala64=) GRCh37: Chr15:66995788 GRCh38: Chr15:66703450	SMAD6		Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 47174864.	NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) GRCh37: Chr15:67073676 GRCh38: Chr15:66781338	SMAD6	P432A	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 47174565.	NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) GRCh37: Chr15:67073536 GRCh38: Chr15:66781198	SMAD6	S385N	Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 47174466.	NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val) GRCh37: Chr15:67073484 GRCh38: Chr15:66781146	SMAD6	L368V	Inborn genetic diseases, Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47174367.	NM_005585.5(SMAD6):c.1029G>T (p.Val343=) GRCh37: Chr15:67073411 GRCh38: Chr15:66781073	SMAD6		Inborn genetic diseases, Aortic valve disease 2, Aneurysm-osteoarthritis syndrome	Likely benign (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45223568.	NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) GRCh37: Chr15:67482807 GRCh38: Chr15:67190469	SMAD3	L404S, L360S, L299S, L209S	Aneurysm-osteoarthritis syndrome, not provided	Uncertain significance (Apr 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44926469.	NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) GRCh37: Chr15:67482864 GRCh38: Chr15:67190526	SMAD3	S423N, S228N, S318N, S379N	not provided, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 44434770.	NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) GRCh37: Chr15:67482854 GRCh38: Chr15:67190516	SMAD3	R420C, R315C, R225C, R376C	Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, not provided	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42620271.	NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) GRCh37: Chr15:67457294 GRCh38: Chr15:67164956	SMAD3	R90C, R46C	Aneurysm-osteoarthritis syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 40556372.	NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) GRCh37: Chr15:67457264 GRCh38: Chr15:67164926	SMAD3	R80W, R36W	Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40556173.	NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) GRCh37: Chr15:67479811 GRCh38: Chr15:67187473	SMAD3	R373H, R268H, R329H, R178H	not provided, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 40551474.	NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) GRCh37: Chr15:66995874 GRCh38: Chr15:66703536	SMAD6	M93T	Aneurysm-osteoarthritis syndrome, not provided, Aortic valve disease 2	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37862075.	NM_005902.4(SMAD3):c.207-13C>T GRCh37: Chr15:67457220 GRCh38: Chr15:67164882	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, not specified	Benign/Likely benign (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37420776.	NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) GRCh37: Chr15:67457307 GRCh38: Chr15:67164969	SMAD3	W94L, W50L	Aneurysm-osteoarthritis syndrome, Vascular dilatation	Conflicting interpretations of pathogenicity (Mar 20, 2019)	criteria provided, conflicting interpretations
Select item 31695077.	NM_005902.4(SMAD3):c.*2995G>A GRCh37: Chr15:67485869 GRCh38: Chr15:67193531	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31694778.	NM_005902.4(SMAD3):c.*2793C>T GRCh37: Chr15:67485667 GRCh38: Chr15:67193329	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31694279.	NM_005902.4(SMAD3):c.*2547C>T GRCh37: Chr15:67485421 GRCh38: Chr15:67193083	SMAD3		not provided, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 31694180.	NM_005902.4(SMAD3):c.*2476A>C GRCh37: Chr15:67485350 GRCh38: Chr15:67193012	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31693981.	NM_005902.4(SMAD3):c.*2444A>G GRCh37: Chr15:67485318 GRCh38: Chr15:67192980	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31693882.	NM_005902.4(SMAD3):c.*2403C>T GRCh37: Chr15:67485277 GRCh38: Chr15:67192939	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31693783.	NM_005902.4(SMAD3):c.*2303G>C GRCh37: Chr15:67485177 GRCh38: Chr15:67192839	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31693584.	NM_005902.4(SMAD3):c.*2285G>A GRCh37: Chr15:67485159 GRCh38: Chr15:67192821	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31693485.	NM_005902.4(SMAD3):c.*2282C>T GRCh37: Chr15:67485156 GRCh38: Chr15:67192818	SMAD3		not provided, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (Jul 15, 2020)	criteria provided, multiple submitters, no conflicts
Select item 31692986.	NM_005902.4(SMAD3):c.*2227G>A GRCh37: Chr15:67485101 GRCh38: Chr15:67192763	SMAD3		Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided	Benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31692887.	NM_005902.4(SMAD3):c.*2046T>C GRCh37: Chr15:67484920 GRCh38: Chr15:67192582	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31692688.	NM_005902.4(SMAD3):c.*2028T>C GRCh37: Chr15:67484902 GRCh38: Chr15:67192564	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31691989.	NM_005902.4(SMAD3):c.*1819C>T GRCh37: Chr15:67484693 GRCh38: Chr15:67192355	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31691690.	NM_005902.4(SMAD3):c.*1790G>A GRCh37: Chr15:67484664 GRCh38: Chr15:67192326	SMAD3		Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31691391.	NM_005902.4(SMAD3):c.*1767G>C GRCh37: Chr15:67484641 GRCh38: Chr15:67192303	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31690992.	NM_005902.4(SMAD3):c.*1641T>G GRCh37: Chr15:67484515 GRCh38: Chr15:67192177	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31690793.	NM_005902.4(SMAD3):c.*1597G>C GRCh37: Chr15:67484471 GRCh38: Chr15:67192133	SMAD3		Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31690294.	NM_005902.4(SMAD3):c.*1423C>T GRCh37: Chr15:67484297 GRCh38: Chr15:67191959	SMAD3		Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31690095.	NM_005902.4(SMAD3):c.*1326A>G GRCh37: Chr15:67484200 GRCh38: Chr15:67191862	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31689896.	NM_005902.4(SMAD3):c.*1315C>T GRCh37: Chr15:67484189 GRCh38: Chr15:67191851	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31689697.	NM_005902.4(SMAD3):c.*1245G>A GRCh37: Chr15:67484119 GRCh38: Chr15:67191781	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31689298.	NM_005902.4(SMAD3):c.*1105G>A GRCh37: Chr15:67483979 GRCh38: Chr15:67191641	SMAD3		Loeys-Dietz syndrome, Aneurysm-osteoarthritis syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31689099.	NM_005902.4(SMAD3):c.*925G>A GRCh37: Chr15:67483799 GRCh38: Chr15:67191461	SMAD3		Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 316888100.	NM_005902.4(SMAD3):c.*798G>A GRCh37: Chr15:67483672 GRCh38: Chr15:67191334	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter

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